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Sample records for retardation facial anomalies

  1. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

    NARCIS (Netherlands)

    Hennekam, R. C.; Geerdink, R. A.; Hamel, B. C.; Hennekam, F. A.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. A.

    1989-01-01

    We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small

  2. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

    Science.gov (United States)

    Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

    1991-12-01

    We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

  3. Anatomical variations of the facial nerve in first branchial cleft anomalies.

    Science.gov (United States)

    Solares, C Arturo; Chan, James; Koltai, Peter J

    2003-03-01

    To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. Case series. Tertiary care center. Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.

  4. STUDY OF FACIAL ASYMMETRY IN PATIENTS WITH DENTOMAXILLARY ANOMALIES

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    Daniela Anistoroaei

    2011-09-01

    Full Text Available The study aimed at establishing the prevalence index of facial asymmetry by extraoral clinical examination of orthodontic patients. The group of study included 384 subjects, selected from the patients who required a specialized orthodontic treatment. Facial asymmetry was evaluated by the parallelism of the horizontal planes and deviation of the menton and nasal pyramid. The age, sex and ecological environment from which one came, the type of dentition and of dento-maxillary anomaly were registered for each patient in part. In the experimental group, facial asymmetry was present in 4.7% of patients, menton deviation in 5.7%, and nasal pyramid deviation - in 3.4%. Significant associations were established between facial asymmetry and the type of dento-maxillary anomaly, classes of age and type of dentition. The results obtained indicate that the prevalence of facial asymmetries in orthodontic patients is especially important for the clinician, as the deviations should be established prior to the initiation of any orthodontic – possibly surgical - treatment.

  5. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial ... The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities ...

  6. C syndrome with skeletal anomalies, mental retardation, eyelid ...

    African Journals Online (AJOL)

    C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child. ... broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect.

  7. The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies.

    Science.gov (United States)

    Ertas, Burak; Gunaydin, Rıza Onder; Unal, Omer Faruk

    2015-04-01

    To share our experience involving seven patients with type II first branchial cleft anomalies (hereafter, type II anomalies), to determine whether the location of the external fistula openings of the anomalies are associated with the location of the facial nerve tract, and elucidate the relationship between the location of the fistula opening and the facial nerve. The medical records of seven patients who underwent surgery from 2005 to 2013 for type II anomalies were retrospectively examined. The relationship between the fistula opening and the facial nerve was evaluated in each patient with respect to whether the fistula opening was superior or inferior to the mandibular angle. All patients underwent partial parotidectomy, facial nerve exposure, and total excision of the mass together with connection of a small cuff of the external auditory canal skin to the fistula tract. The fistula tracts were located medially to the facial nerve in two patients, and both fistulae had openings inferior to the mandibular angle. The fistula tracts were located laterally to the facial nerve in the remaining five patients: one patient had no external opening, one had an opening inferior to the mandibular angle, and the remaining three had openings superior to the mandibular angle. Because type II anomalies are rare, their diagnosis is difficult. Surgery of such lesions is challenging and associated with a high risk due to their proximity to the facial nerve. We believe that the location of the fistula opening may help to identify the relationship between the anomalous lesion and facial nerve. Studies involving larger series of cases are needed to confirm our hypothesis; however, because of the rarity of this specific anomaly, it will not be easy to compile a large number of cases. We believe that our study will encourage further investigation on this subject. Copyright © 2014. Published by Elsevier Ireland Ltd.

  8. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

    Science.gov (United States)

    Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

    2014-01-01

    Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

  9. Relation between a first branchial cleft anomaly and the facial nerve.

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    Guo, Yu-Xing; Guo, Chuan-Bin

    2012-04-01

    Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  10. A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

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    Gurudutt S. Joshi

    2017-10-01

    Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.

  11. Multiple dental anomalies accompany unilateral disturbances in abducens and facial nerves: A case report

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    Elham Talatahari

    2016-01-01

    Full Text Available This article describes the oral rehabilitation of an 8-year-old girl with extensively affected primary and permanent dentition. This report is unique in which distinct dental anomalies including enamel hypoplasia, irregular dentin formation, taurodontism, hpodontia and dens in dente accompany unilateral disturbance of abducens and facial nerves which control the lateral eye movement, and facial expression, respectively.   Keywords: enamel hypoplasia; irregular dentin formation; taurodontism; hypodontia; dens in dente; abducens and facial nerves;

  12. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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    Weigel Corina

    2005-04-01

    Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

  13. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

    NARCIS (Netherlands)

    Kalscheuer, V.M.M.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Smeets, D.F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; Ropers, H.H.

    2008-01-01

    We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix

  14. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

    NARCIS (Netherlands)

    Kalscheuer, Vera M.; Feenstra, Ilse; Van Ravenswaaij Arts, Conny M. A.; Smeets, Dominique F. C. M.; Menzel, Corinna; Ullmann, Reinhard; Musante, Luciana; Ropers, Hans-Hilger

    2008-01-01

    We have characterized a de novo balanced translocation (18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix transcription

  15. Orthognathic surgery for mentally retarded patients

    NARCIS (Netherlands)

    Becking, A. G.; Tuinzing, D. B.

    1991-01-01

    The surgical treatment of mentally retarded children for esthetic reasons is discussed. In mentally retarded adults a facial deformity can give rise to functional problems; in some cases a facial deformity can stigmatize the mental state. In selected cases orthognathic surgery may offer a solution

  16. First branchial groove anomaly.

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    Kumar, M; Hickey, S; Joseph, G

    2000-06-01

    First branchial groove anomalies are very rare. We report a case of a first branchial groove anomaly presented as an infected cyst in an 11-month-old child. Management of such lesions is complicated because of their close association with the facial nerve. Surgical management must include identification and protection of the facial nerve. Embryology and facial nerve disposition in relation to the anomaly are reviewed.

  17. Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

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    J.A. Avina Fierro

    2016-01-01

    Full Text Available We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique showed a balanced translocation between the chromosomes two and eleven: t(2:11 (q32.2/q24.

  18. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

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    Conrad, Máire A; Dawany, Noor; Sullivan, Kathleen E; Devoto, Marcella; Kelsen, Judith R

    2017-12-01

    Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings. Whole-exome sequencing revealed that the child was homozygous for a novel variant in ZBTB24, the gene associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome. This describes the first case of inflammatory bowel disease associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome in a child with a novel disease-causing mutation in ZBTB24 found on whole-exome sequencing.

  19. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

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    Thomeer, Henricus; Kunst, Henricus; Verbist, Berit; Cremers, Cor

    2012-07-01

    To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. Retrospective chart study. Tertiary referral center. A tertiary referral center study with a total of 14 patients with congenital minor ear anomalies as part of a consecutive series (n = 89) who underwent exploratory tympanotomies (15 ears). Audiometric results. In 8 of 15 ears, ossicular reconstruction was attempted. In the short term (1 mo), there was a serviceable hearing outcome (air-bone gap closure to within 25 dB) in 4 ears. However, the long-term results showed deterioration because of an increased air-bone gap in all but 1 ear. No facial nerve lesion was observed postoperatively. Congenital dysplasia or aplasia of the oval and/or round window is an uncommon congenital minor ear anomaly. Classical microsurgical opportunities are rare in this group of anomalies. Newer options for hearing rehabilitation, such as the osseointegrated passive bone conduction devices, have become viable alternatives for conventional air conduction hearing devices. In the near future, upcoming active bone conduction devices might become the most preferred surgical option. In cases in which the facial nerve is only partially overlying the oval window, a type of malleostapedotomy procedure might result in a serviceable postoperative hearing level.

  20. Case Report - Facial dysmorphism, skeletal anomalies, congenital ...

    African Journals Online (AJOL)

    Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly ...

  1. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

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    Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

    2014-01-01

    Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. First branchial cleft anomalies: avoiding the misdiagnosis.

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    Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

    2013-07-01

    First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

  3. [Relationship between Work Ⅱ type of congenital first branchial cleft anomaly and facial nerve and surgical strategies].

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    Zhang, B; Chen, L S; Huang, S L; Liang, L; Gong, X X; Wu, P N; Zhang, S Y; Luo, X N; Zhan, J D; Sheng, X L; Lu, Z M

    2017-10-07

    Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection. According to the classification of Olsen, all 37 cases were non-cyst (sinus or fistula). External fistula located over the mandibular angle in 28 (75.7%) cases and below the angle in 9 (24.3%) cases. Results: Surgeries were performed successfully in all the 37 cases. It was found that lesions located at anterior of the facial nerve in 13 (35.1%) cases, coursed between the branches in 3 cases (8.1%), and lied in the deep of the facial nerve in 21 (56.8%) cases. CFBCA in female with external fistula below mandibular angle and membranous band was more likely to lie deep of the facial nerve than in male with external fistula over the mandibular angle but without myringeal web. Conclusions: CFBCA in female patients with a external fistula located below the mandibular angle, non-cyst of Olsen or a myringeal web is more likely to lie deep of the facial nerve. Surgeons should particularly take care of the protection of facial nerve in these patients, if necessary, facial nerve monitoring technology can be used during surgery to complete resection of lesions.

  4. First branchial cleft anomaly, a case for misdiagnosis.

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    Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

    2004-01-01

    First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

  5. Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

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    Nagel Bert

    2012-07-01

    Full Text Available Abstract Background Left ventricular hypertrabeculation/noncompaction (LVHT is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism. Case presentation A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH detected six previously not described copy number variants (CNVs inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants. Conclusions Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.

  6. Duplicated facial nerve trunk with a first branchial cleft cyst.

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    Hinson, Drew; Poteet, Perry; Bower, Charles

    2014-03-01

    First branchial cleft anomalies are rare and their various anatomical relationships to the facial nerve have been described. We encountered a 15-year-old female with a type II first branchial cleft cyst presenting as a right neck mass that we found during surgical excision to transverse two main facial nerve trunks. To our knowledge, this is the first reported case of a first branchial cleft anomaly in conjunction with a duplicated facial nerve trunk. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  7. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  8. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

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    Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiß, Martina; Strom, Tim M; Wieczorek, Dagmar; Haack, Tobias B; Beck-Wödl, Stefanie; Cremer, Kirsten; Engels, Hartmut

    2018-05-01

    Intellectual disability (ID) has an estimated prevalence of 1.5-2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that a large proportion of sporadic ID cases results from de novo mutations. Here, we present two unrelated individuals with similar clinical features and deleterious de novo variants in FBXO11 detected by WES. Individual 1, a 14-year-old boy, has mild ID as well as mild microcephaly, corrected cleft lip and alveolus, hyperkinetic disorder, mild brain atrophy and minor facial dysmorphism. WES detected a heterozygous de novo 1 bp insertion in the splice donor site of exon 3. Individual 2, a 3-year-old boy, showed ID and pre- and postnatal growth retardation, postnatal mild microcephaly, hyperkinetic and restless behaviour, as well as mild dysmorphism. WES detected a heterozygous de novo frameshift mutation. While ten individuals with ID and de novo variants in FBXO11 have been reported as part of larger studies, only one of the reports has some additional clinical data. Interestingly, the latter individual carries the identical mutation as our individual 2 and also displays ID, intrauterine growth retardation, microcephaly, behavioural anomalies, and dysmorphisms. Thus, we confirm deleterious de novo mutations in FBXO11 as a cause of ID and start the delineation of the associated clinical picture which may also comprise postnatal microcephaly or borderline small head size and behavioural anomalies.

  9. Derivative 11;22 (Emanuel Syndrome: A Case Report and A Review

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    Madan Gopal Choudhary

    2013-01-01

    Full Text Available Emanuel syndrome (ES is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

  10. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

    Science.gov (United States)

    Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

    2017-03-01

    Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

  11. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

    NARCIS (Netherlands)

    Krawitz, P.M.; Schweiger, M.R.; Rodelsperger, C.; Marcelis, C.L.M.; Kolsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Kohler, S.; Jager, M. de; Grunhagen, J.; Condor, B.J. de; Doelken, S.; Brunner, H.G.; Meinecke, P.; Passarge, E.; Thompson, M.D.; Cole, D.E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P.N.

    2010-01-01

    Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational

  12. [Surgical treatment of first branchial cleft anomaly].

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    Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

    2005-10-01

    To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

  13. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

    Science.gov (United States)

    Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

    2015-04-01

    In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition. © 2015 Wiley Periodicals, Inc.

  14. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    J.A. Avina Fierro

    2015-06-09

    Jun 9, 2015 ... metopic suture, but also can be distinguished the other minor facial anomalies that are found in ... synostosis in the metopic suture, it is a triangular shaped ..... ily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J.

  15. Branchial anomalies: diagnosis and management.

    Science.gov (United States)

    Prasad, Sampath Chandra; Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Bacciu, Andrea; Prasad, Kishore Chandra

    2014-01-01

    Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence.

  16. Branchial Anomalies: Diagnosis and Management

    Science.gov (United States)

    Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Prasad, Kishore Chandra

    2014-01-01

    Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence. PMID:24772172

  17. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

    Science.gov (United States)

    Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

    2006-03-01

    Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

  18. Soft tissue thickness of face profile conditioning by dento-skeletal anomalies

    Directory of Open Access Journals (Sweden)

    Tanić Tatjana

    2011-01-01

    Full Text Available Introduction. Orthodontic treatment of dento-skeletal anomalies is generally based on the correction of teeth and jaws relationship, while it is expected that soft facial tissue spontaneously adapts to therapeutically achieved relationship and to accompany hard tissue changes. Objective. To establish facial soft tissue thickness conditioning by the presence of dento-skeletal anomalies. Methods. The study was performed at the Dental Clinic of Niš, and involved the analysis of cephalometric rendgenograms in 121 patients, aged 12-18 years, with no previous orthodontical treatment. According to dento-skeletal relationship between teeth and jaws the patients were divided into four groups; class I (control group, class II of division 1, class II of division 2 and class III. The standard analysis of dento-skeletal profile was done according to Steiner and soft tissue profile according to Burstone was done in all. Results. The patients of class II/1 had a significantly thinner upper lip (t=2.650; p<0.05 and thinner upper lip sulcus (t=1.999; p<0.05. The patients of class II/2 had a significantly thicker upper lip (t=2.912; p<0.01, while those of class III had a significantly thinner lower lip (t=3.900; p<0.001. Conclusion. The thickness of facial soft tissue considerably influences facial profile appearance in persons with a dento-skeletal anomaly. Not only do soft tissues adapt to the existing jaws relationship, but can also camouflage present anomalies.

  19. Haspeslagh syndrome without severe mental retardation and pterygia?

    NARCIS (Netherlands)

    van Bever, Y.; Hennekam, R. C.

    1995-01-01

    An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this

  20. Hennekam lymphangiectasia syndrome

    OpenAIRE

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia...

  1. Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

    Science.gov (United States)

    Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

    2016-01-01

    Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

  2. Psychological impact of visible differences in patients with congenital craniofacial anomalies.

    Science.gov (United States)

    Singh, Varun Pratap; Moss, Timothy P

    2015-01-01

    Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients.

  3. Genetics Home Reference: branchio-oculo-facial syndrome

    Science.gov (United States)

    ... face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo ...

  4. Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

    OpenAIRE

    Lee, Jin Hwan; Kim, Hyo Jeong; Yoon, Jung Min; Cheon, Eun Jung; Lim, Jae Woo; Ko, Kyong Og; Lee, Gyung Min

    2016-01-01

    Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cas...

  5. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  6. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

    2001-01-01

    A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

  7. First branchial cleft anomalies in children: Experience with 30 cases.

    Science.gov (United States)

    Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

    2017-07-01

    First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential.

  8. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  9. [Normal and pathologic mandible development: practical deductions in maxillo-dento-facial orthopedics].

    Science.gov (United States)

    Salagnac, Jean-Michel

    2016-09-01

    The mandible consists of different segments, each of which possess its own specific characteristics regarding emergence, ossification during growth and pathologies. Orthodontists need to be very familiar with these developmental anomalies if they are to avoid failure in their orthopedic or orthodontic treatments and in order to understand the reasons for the lack of success of "conventional" treatments. Each segment must develop correctly if the mandible is to achieve optimal development and occupy a normal position within the cranio-facial complex. The position of the mandible in the cranio-facial block is also conditioned by its attachment to the base of the skull. Combining a detailed semiologic study and a three-dimensional architectural and structural radiologic analysis of clinical cases, this article investigates the various anomalies affecting the mandibular segments and their impact on the craniofacial structure as a whole. An understanding of these anomalies and this analytical method can enable clinicians to perform early diagnosis, avoid undertaking orthopedic and orthodontic treatments which are likely to fail, understand the reasons for unsuccessful "conventional" treatments, provide an orthopedic-surgical guide and make it possible to inform patients correctly. Anomalies affecting the growth of the mandible and its position on the cranial base and their impact on cranio-facial skeletal balance are clearly revealed by structural and architectural analysis, which pinpoints the different clinical elements in skeletal Class II et III cases. In maxilla-dento-facial orthopedics when confronted with a pathology of mandibular origin, it is essential to carefully study the radiographs of each segment of the mandible, to seek out the minor forms of the anomalies and to calculate the position of the mandible on the cranial base relative to the neighboring structures; the skull, the cervical vertebrae and the maxilla. © EDP Sciences, SFODF, 2016.

  10. Anomalous facial nerve canal with cochlear malformations.

    Science.gov (United States)

    Romo, L V; Curtin, H D

    2001-05-01

    Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

  11. Hennekam lymphangiectasia syndrome

    Science.gov (United States)

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  12. Correction of Facial Deformity in Sturge–Weber Syndrome

    Science.gov (United States)

    Yamaguchi, Kazuaki; Lonic, Daniel; Chen, Chit

    2016-01-01

    Background: Although previous studies have reported soft-tissue management in surgical treatment of Sturge–Weber syndrome (SWS), there are few reports describing facial bone surgery in this patient group. The purpose of this study is to examine the validity of our multidisciplinary algorithm for correcting facial deformities associated with SWS. To the best of our knowledge, this is the first study on orthognathic surgery for SWS patients. Methods: A retrospective chart review included 2 SWS patients who completed the surgical treatment algorithm. Radiographic and clinical data were recorded, and a treatment algorithm was derived. Results: According to the Roach classification, the first patient was classified as type I presenting with both facial and leptomeningeal vascular anomalies without glaucoma and the second patient as type II presenting only with a hemifacial capillary malformation. Considering positive findings in seizure history and intracranial vascular anomalies in the first case, the anesthetic management was modified to omit hypotensive anesthesia because of the potential risk of intracranial pressure elevation. Primarily, both patients underwent 2-jaw orthognathic surgery and facial bone contouring including genioplasty, zygomatic reduction, buccal fat pad removal, and masseter reduction without major complications. In the second step, the volume and distribution of facial soft tissues were altered by surgical resection and reposition. Both patients were satisfied with the surgical result. Conclusions: Our multidisciplinary algorithm can systematically detect potential risk factors. Correction of the asymmetric face by successive bone and soft-tissue surgery enables the patients to reduce their psychosocial burden and increase their quality of life. PMID:27622111

  13. Anomaly of the facial canal in a Mondini malformation with recurrent meningitis

    International Nuclear Information System (INIS)

    Curtin, H.D.; Vignaud, J.; Bar, D.

    1982-01-01

    A patient with recurrent meningitis and congenital hearing loss was evaluated with tomography and metrizamide cisternography. Tomography showed an aberrant first portion of the facial nerve canal, while on cisternography, communication between the internal auditory canal and the dilated labyrinthine remnant was evident. The authors describe the radiographic findings and their significance and propose a mechanism for the formation of the anomalous facial nerve canal

  14. Anomaly of the facial canal in a Mondini malformation with recurrent meningitis.

    Science.gov (United States)

    Curtin, H D; Vignaud, J; Bar, D

    1982-07-01

    A patient with recurrent meningitis and congenital hearing loss was evaluated with tomography and metrizamide cisternography. Tomography showed an aberrant first portion of the facial nerve canal, while on cisternography, communication between the internal auditory canal and the dilated labyrinthine remnant was evident. The authors describe the radiographic findings and their significance and propose a mechanism for the formation of the anomalous facial nerve canal.

  15. Anomaly of the facial canal in a Mondini malformation with recurrent meningitis

    Energy Technology Data Exchange (ETDEWEB)

    Curtin, H.D. (Eye and Ear Hospital, Pittsburgh, PA); Vignaud, J.; Bar, D.

    1982-07-01

    A patient with recurrent meningitis and congenital hearing loss was evaluated with tomography and metrizamide cisternography. Tomography showed an aberrant first portion of the facial nerve canal, while on cisternography, communication between the internal auditory canal and the dilated labyrinthine remnant was evident. The authors describe the radiographic findings and their significance and propose a mechanism for the formation of the anomalous facial nerve canal.

  16. Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique.

    Science.gov (United States)

    Schmidt, Richard; Conrad, David; Field, Erin; O'Reilly, Robert

    2015-06-01

    First branchial cleft anomalies are uncommon lesions that often present as periauricular infections. They have high recurrence rates, due in part to scarring secondary to prior infections and their management. These lesions have a close relationship with the facial nerve, and most authors recommend its identification and dissection because of this relationship. Nonetheless, facial nerve palsy has been reported in up to 15% of cases. We describe a novel technique for the management of first branchial cleft anomalies. Such lesions that presented in an infra- or postauricular location were approached via an incision through the cartilage of the pinna, between the tragus and antitragus. This technique affords direct access to the lesion without the need for facial nerve dissection. Six patients were treated. Five had prior surgery, including 3 with previous attempts at excision. There were no complications. The median follow-up was 35 months. One patient developed a recurrence. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  17. Limb anomalies in DiGeorge and CHARGE syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Prasad, C.; Quackenbush, E.J.; Whiteman, D.; Korf, B. [Harvard Medical School, Boston, MA (United States)

    1997-01-20

    Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies. 14 refs., 4 figs.

  18. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-01-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

  19. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

    Science.gov (United States)

    Toutain, A; Ayrault, A D; Moraine, C

    1997-08-22

    Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.

  20. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

    Science.gov (United States)

    Goh, Elaine Suk-Ying; Li, Chumei; Horsburgh, Sheri; Kasai, Yumi; Kolomietz, Elena; Morel, Chantal France

    2010-02-01

    Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented. Copyright 2010 Wiley-Liss, Inc.

  1. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  2. A complete solution for GP-B's gyroscopic precession by retarded gravitational theory

    Science.gov (United States)

    Tang, Keyun

    be more than 130.5 arc-seconds; this means that Le Verrier’s observation on Mercury’s orbital anomaly can not be explained correctly by the Schwarzschild metric. In contrast, Mercury’s angular speed anomaly can be explained satisfactorily by the radial induction component and angular component of retarded gravitation. From the perspective of energy, the additional radial component of retarded gravitation makes the radius of Mercury’s orbit slightly smaller, i.e. some potential energy is lost. And the angular component of retarded gravitation changes the Mercury's angular momentum; this proves that the changes of Mercury’s orbit and angular speed are the results of gravitational radiation. I have found that there are similar errors in the explanation on the gyroscopic precession of GP-B, i.e. physicists only consider the contribution of the nonlinear perturbation terms and never consider the contribution of linear perturbation terms. For the precession of GP-B, the complete Schwarzschild’s solution should be about 19.8 arc-seconds per year; it is far more than the experimental results of 6.602 arc-seconds per year. I have calculated the gyroscopic precession of GP-B due to retarded gravitation, the result is 6.607 arc-seconds per year; this matches well with the experimental results. These successful explanations for both anomalies of Mercury’s orbit and the gyroscopic precession of GP -B shows that Retarded Gravitation is indeed a sound gravitational theory, and that spacetime is in fact flat, and gravity travels at the speed of light. Both Mercury’s angular speed anomaly and GP - B gyro precession were the result of the gravitational radiation!

  3. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    NARCIS (Netherlands)

    Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

    2017-01-01

    In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

  4. Branchial anomalies in children.

    Science.gov (United States)

    Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

    2011-08-01

    Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type

  5. Evaluation of fetal anomalies with MR imaging

    International Nuclear Information System (INIS)

    Benson, R.C.; Platt, L.D.; Colletti, P.M.; Raval, J.K.; Boswell, W.D. Jr.; Halls, J.M.

    1987-01-01

    Twenty pregnant women underwent MR imaging (0.5 T) after US disclosed a significant fetal anomaly. The ability of MR imaging to depict the abnormalities was assessed. Of 20 abnormalities, 17 were visualized with MR imaging. Abnormalities included conjoined twins, omphalocele, gastroschisis, hydrocephalus, hydronephrosis, fetal ascites, facial teratoma, anencephaly, bladder outlet obstruction, thanatophoric dwarfism, cystic, hygroma, and fetal ovarian cyst. Thirteen of 14 abnormalities in third-trimester fetuses were visualized, as were four of six abnormalities in second-trimester fetuses. Associated polyhydramnios or oligohydramnios was evident in six of six cases. Anomalies were best delineated with T1-weighted sequences. The study suggests that MR imaging is potentially useful as a complementary imaging modality in the evaluation of fetal anomalies

  6. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

    Science.gov (United States)

    He, Yunjuan; Ji, Xing; Yan, Hui; Ye, Xiantao; Liu, Yu; Wei, Wei; Xiao, Bing; Sun, Yu

    2018-06-20

    Biallelic UNC80 mutations cause infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2), which is characterized by hypotonia, developmental delay (DD)/intellectual disability (ID), intrauterine growth retardation, postnatal growth retardation and characteristic facial features. We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by whole-exome sequencing (WES). Mutations c.3719G>A (p.W1240*)/c.4926_4937del (p.N1643_L1646del) and c.4963C>T (p.R1655C)/c.8385C>G (p.Y2795*) were identified in patient 1 and patient 2, respectively. Although both patients presented with DD/ID and hypotonia, different manifestations also occurred. Patient 1 presented with infantile hypotonia, epilepsy and hyperactivity without growth retardation, whereas patient 2 presented with persistent hypotonia, growth retardation and self-injury without epilepsy. Furthermore, we herein summarize the genotypes and phenotypes of patients with UNC80 mutations reported in the literature, revealing that IHPRF2 is a phenotypically heterogeneous disease. Common facial dysmorphisms include a thin upper lip, a tented upper lip, a triangular face, strabismus and microcephaly. To some extent, the manifestations of IHPRF2 mimic those of Angelman syndrome (AS)-like syndromes. Copyright © 2018 Elsevier B.V. All rights reserved.

  7. The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment.

    Science.gov (United States)

    Stokroos, R J; Manni, J J

    2000-11-01

    To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. Retrospective case review. Tertiary referral center. Patients with a first branchial cleft anomaly. Surgery or revision surgery. Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.

  8. Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

    NARCIS (Netherlands)

    Marcelis, C.L.M.; Rieu, P.N.M.A.; Beemer, F.; Brunner, H.G.

    2007-01-01

    We report two sisters born to consanguineous parents with an identical syndrome consisting of severe mental retardation and epilepsy, hypoplastic terminal phalanges, and anteriorly displaced anus. Further metabolic and genetic testing failed to detect the etiology. A whole genome linkage scan showed

  9. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  10. A rare cause of tall stature: Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-12-01

    Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

  11. Bilateral multicystic renal dysplasia with potter sequence: A case with penile agenesis

    International Nuclear Information System (INIS)

    Dursun, Ahmet; Ermis, Bahri; Bahadir, Burak; Seckiner, Ilker

    2006-01-01

    Hereditary renal adysplasia (HRA) is rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low set ears and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thin skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association and Coloboma, heart anomaly, choanal atresia, retardation, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. (author)

  12. Adult psychological functioning of individuals born with craniofacial anomalies.

    Science.gov (United States)

    Sarwer, D B; Bartlett, S P; Whitaker, L A; Paige, K T; Pertschuk, M J; Wadden, T A

    1999-02-01

    This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

  13. Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

    OpenAIRE

    Maryam Malmir; Maryam Seifenaraghi; Dariush D Farhud; G Ali Afrooz; Mohammad Khanahmadi

    2015-01-01

    Background: According to the mother?s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother?s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndro...

  14. First branchial cleft anomalies: otologic manifestations and treatment outcomes.

    Science.gov (United States)

    Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

    2015-03-01

    This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; Pbranchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

  15. Oculoauriculovertebral spectrum with radial anomaly in child.

    Science.gov (United States)

    Taksande, Amar; Vilhekar, Krishna

    2013-01-01

    Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

  16. Oculoauriculovertebral spectrum with radial anomaly in child

    Directory of Open Access Journals (Sweden)

    Amar Taksande

    2013-01-01

    Full Text Available Oculoauriculovertebral spectrum (OAVS or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

  17. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

    NARCIS (Netherlands)

    Bouman, Arjan; Alders, Mariëlle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie-Kersemaekers, Anne-Marie; van Maarle, Merel

    2017-01-01

    Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is

  18. Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography

    International Nuclear Information System (INIS)

    Lopes, Vera Lucia Gil da Silva; Giffoni, Silvio David Araujo

    2006-01-01

    The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH) isolated or associated with multiple congenital anomalies (MCA). The investigation protocol included dysmorphological examination, skull and facial X-rays, brain CT and/or MRI. We studied 24 individuals, 12 of them had an isolated form (Group I) and the others, MCA with unknown etiology (Group II). There was no significant difference between Group I and II and the results are presented in set. In addition to the several CNS anomalies previously described, MRI (n=18) was useful for detection of neuronal migration errors. These data suggested that structural CNS anomalies and MFDH seem to have an intrinsic embryological relationship, which should be taken in account during the clinical follow-up. (author)

  19. Síndrome brânquio-óculo-facial (BOFS e cardiopatias congênitas Síndrome branquio óculo facial (BOFS y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS and congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2009-02-01

    Full Text Available Relatamos aqui o caso de um menino com 43 dias de vida, apresentando síndrome brânquio-óculo-facial (BOFS e cardiopatia congênita. Na avaliação clínica, ele possuía retardo de crescimento, pregas epicânticas, fendas palpebrais pequenas, telecanto, base nasal alargada, fenda labial falsa (pseudocleft, micrognatia, orelhas displásicas e rotadas posteriormente, fendas branquiais, pescoço curto e alado, mamilo extranumerário, hipotonia e reflexos tendinosos profundos diminuídos. A ecocardiografia verificou presença de um defeito do septo atrioventricular completo do tipo A e persistência do canal arterial. Essa descrição fortalece a possibilidade de que defeitos cardíacos congênitos possam fazer parte do espectro de anormalidades observado na BOFS.Relatamos en este estudio el caso de un niño con 43 días de vida, que presentaba síndrome branquio óculo facial (BOFS y cardiopatía congénita. En la evaluación clínica, revelaba retardo de crecimiento, pliegues epicánticos, hendiduras palpebrales pequeñas, telecanto, base nasal ensanchada, hendidura labial falsa (pseudocleft, micrognatia, orejas displásicas y rotadas posteriormente, hendiduras branquiales, cuello corto y alado, pezón extranumerario, hipotonía y reflejos tendinosos profundos diminuidos. La ecocardiografía verificó la presencia de un defecto del septo atrioventricular completo del tipo A y conducto arterial persistente. Dicha descripción fortalece la posibilidad de que defectos cardiacos congénitos puedan forman parte del espectro de anormalidades observado en la BOFS.We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia

  20. First branchial cleft anomaly.

    Science.gov (United States)

    Al-Fallouji, M. A.; Butler, M. F.

    1983-01-01

    A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

  1. Odontogenic facial swelling of unknown origin.

    Science.gov (United States)

    Ranjitkar, S; Cheung, W; Yong, R; Deverell, J; Packianathan, M; Hall, C

    2015-12-01

    Current radiography techniques have limitations in detecting subtle odontogenic anomalies or defects that can lead to dentoalveolar and facial infections. This report examines the application of micro-CT imaging on two extracted teeth to enable detailed visualization of subtle odontogenic defects that had given rise to facial swelling. Two extracted non-carious mandibular left primary canine teeth (73) associated with odontogenic infections were selected from two patients, and an intact contralateral tooth (83) from one of the patients was used as a control. All three teeth were subjected to three-dimensional micro-CT imaging at a resolution of 20 μm. Tooth 73 from the first case displayed dentine pores (channels) that established communication between the pulp chamber and the exposed dentine surface. In comparison, tooth 73 from the second case had a major vertical crack extending from the external enamel surface into the pulp chamber. The control tooth did not display any anomalies or major cracks. The scope of micro-CT imaging can be extended from current in vitro applications to establish post-extraction diagnosis of subtle odontogenic defects, in a manner similar to deriving histopathological diagnoses in extracted teeth. Ongoing technological advancements hold the promise for more widespread translatory applications. © 2015 Australian Dental Association.

  2. [Management and classification of first branchial cleft anomalies].

    Science.gov (United States)

    Zhong, Zhen; Zhao, Enmin; Liu, Yuhe; Liu, Ping; Wang, Quangui; Xiao, Shuifang

    2013-07-01

    We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases

  3. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro (Tokyo Univ. (Japan). Faculty of Medicine); Matsumura, Kiichiro

    1993-12-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author).

  4. Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

    International Nuclear Information System (INIS)

    Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro; Matsumura, Kiichiro.

    1993-01-01

    Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author)

  5. Risk factors for congenital anomalies in high risk pregnant women: A ...

    African Journals Online (AJOL)

    Tella Sunitha

    2016-05-14

    May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

  6. Overview of pediatric peripheral facial nerve paralysis: analysis of 40 patients.

    Science.gov (United States)

    Özkale, Yasemin; Erol, İlknur; Saygı, Semra; Yılmaz, İsmail

    2015-02-01

    Peripheral facial nerve paralysis in children might be an alarming sign of serious disease such as malignancy, systemic disease, congenital anomalies, trauma, infection, middle ear surgery, and hypertension. The cases of 40 consecutive children and adolescents who were diagnosed with peripheral facial nerve paralysis at Baskent University Adana Hospital Pediatrics and Pediatric Neurology Unit between January 2010 and January 2013 were retrospectively evaluated. We determined that the most common cause was Bell palsy, followed by infection, tumor lesion, and suspected chemotherapy toxicity. We noted that younger patients had generally poorer outcome than older patients regardless of disease etiology. Peripheral facial nerve paralysis has been reported in many countries in America and Europe; however, knowledge about its clinical features, microbiology, neuroimaging, and treatment in Turkey is incomplete. The present study demonstrated that Bell palsy and infection were the most common etiologies of peripheral facial nerve paralysis. © The Author(s) 2014.

  7. PRENATAL EXPOSURE TO PHENYTOIN, FACIAL DEVELOPMENT, AND A POSSIBLE ROLE FOR VITAMIN-K

    NARCIS (Netherlands)

    HOWE, AM; LIPSON, AH; SHEFFIELD, LJ; HAAN, EA; HALLIDAY, JL; JENSON, F; DAVID, DJ; WEBSTER, WS

    1995-01-01

    Ten patients with maxillonasal hypoplasia (Binder ''syndrome''), who were prenatally exposed to phenytoin (usually in combination with other anticonvulsants), were identified retrospectively. In addition to their facial anomalies, 6 of the patients were radiographed neonatally and showed punctate

  8. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

  9. Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet

    Directory of Open Access Journals (Sweden)

    Aline Receveur

    2017-10-01

    Conclusion: The data would allow establishing a phenotype–genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations.

  10. [Selective neck dissection for treating recurrent branchial anomalies].

    Science.gov (United States)

    Chen, Liangsi; Song, Xinhan; Zhang, Siyi; Han, Zhijuan; Luo, Xiaoning; Chen, Shaohua; Zhan, Jiandong

    2011-01-01

    To evaluate the role of selective neck dissection in the treatment of recurrent branchial anomalies. The clinical data of 18 patients with recurrent branchial anomalies were retrospectively analyzed. In accordance with the embryologic and anatomic features of branchial anomalies, different types of selective neck dissection were applied. With dissection and protection of important vessels, nerves and other structures, enbloc resection principles were applied to extirpate branchial lesions, scarrings and inflammatory granuloma during the operation. Of all 18 patients, 16 cases were healed with primary healing, 2 cases with local incision infection were healed after dressing changes. A temporary facial nerve paralysis occurred in 1 case with recurrent first branchial cleft fistula postoperatively, and completely recovered 2 months after operation. A postoperative temporary vocal cord paralysis occurred in 1 case with recurrent fourth branchial cleft fistula, and totally recuperated 1 month after operation. No recurrences were found in all 18 cases with a follow-up period of 12-78 months (average 35 months). Selective neck dissection is a safe and effective surgical procedure for the radical treatment of recurrent branchial anomalies.

  11. Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

    Science.gov (United States)

    Malmir, Maryam; Seifenaraghi, Maryam; Farhud, Dariush D; Afrooz, G Ali; Khanahmadi, Mohammad

    2015-05-01

    According to the mother's key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother's happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9-12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student's IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Mother's happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Parents' happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children.

  12. Basal encephalocele in an adult patient presenting with minor anomalies: a case report

    Science.gov (United States)

    2014-01-01

    Introduction Basal encephalocele is rare in adults. Congenital and acquired cases have been reported with regard to the developmental mechanism, and the pathology has not been elucidated in detail. Case presentation We encountered an adult with basal encephalocele strongly suggesting congenital development because of the presence of minor anomalies: strabismus and ocular hypertelorism. The disease manifested as persistent spontaneous cerebrospinal fluid rhinorrhea and repeated meningitis in a 66-year-old Japanese man. On computed tomography, brain tissue protruded through a part of the ethmoid bone of his right anterior skull base, and it was diagnosed as transethmoidal-type basal encephalocele. Regarding his facial form, the distance between his bilateral eyeballs was large compared to his facial width, and his canthal index (defined as inner to outer inter canthal ratio × 100) was calculated as 38.5, based on which it was judged as ocular hypertelorism. In addition, his right eyeball showed strabismus. A right frontotemporal craniotomy was performed for spontaneous cerebrospinal fluid rhinorrhea, and the defective dura mater region was patched with temporal fascia. Conclusions Mild minor anomalies that require no treatment are overlooked in adults, but the presence of several anomalies increases the possibility of congenital disease. Therefore, it may be necessary to examine minor anomalies in cases of adult basal encephalocele when considering the possibility that the disease may be congenital. PMID:24468320

  13. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    DEFF Research Database (Denmark)

    Grønskov, Karen; Poole, Rebecca L; Hahnemann, Johanne M D

    2011-01-01

    Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregula...

  14. Transverse facial cleft: A series of 17 cases

    Directory of Open Access Journals (Sweden)

    L K Makhija

    2011-01-01

    Full Text Available Introduction: Transverse facial cleft (Tessier type 7 or congenital macrostomia is a rare congenital anomaly seldom occurring alone and is frequently associated with deformities of the structures developing from the first and second branchial arches. The reported incidence of No. 7 cleft varies from 1 in 60,000 to 1 in 300,000 live births. Material and Methods: Seventeen patients of transeverse facial cleft who presented to us in last 5 years were included in the study. Their history regarding familial and environmental predispositions was recorded. The cases were analysed on basis of sex, laterality, severity, associated anomalies and were graded according to severity. They were operated by z plasty technique and were followed up for 2 years to look for effectiveness of the technique and its complications. Result: Out of the seventeen patients of transverse cleft, none had familial predilection or any environmental etiology like antenatal radiological exposure or intake of drugs of teratogenic potential. Most of the patients (9/17 were associated with hemifacial microsomia and 1 patient was associated with Treacher Colin′s Syndrome. Out of the 6 cases of Grade I clefts, 4 were isolated transverse clefts and of the 10 patients of Grade II clefts, 7 were associated with hemifacial microsomia. We encountered only one case of Grade III Transverse Cleft which was not only associated with hemifacial microsomia but also had cardiac anomaly. Out of the17 cases, 15 were operated and in most of them the outcome was satisfactory.

  15. Mother’s Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome

    Science.gov (United States)

    MALMIR, Maryam; SEIFENARAGHI, Maryam; FARHUD, Dariush D.; AFROOZ, G.Ali; KHANAHMADI, Mohammad

    2015-01-01

    Background: According to the mother’s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother’s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. Methods: This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9–12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student’s IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Results: Mother’s happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Conclusion: Parents’ happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children. PMID:26284205

  16. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

    Science.gov (United States)

    Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

    2014-06-01

    Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  17. Mowat-Wilson-syndrom hos tre danske børn

    DEFF Research Database (Denmark)

    Nissen, Karin Bækgaard; Søndergaard, Charlotte; Thelle, Thomas

    2011-01-01

    Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy......, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS....

  18. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  19. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  20. Alpha thalassaemia-mental retardation, X linked

    Directory of Open Access Journals (Sweden)

    Gibbons Richard

    2006-05-01

    Full Text Available Abstract X-linked alpha thalassaemia mental retardation (ATR-X syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

  1. Refined localization of the Prieto-syndrome locus

    Energy Technology Data Exchange (ETDEWEB)

    Martinez, F.; Prieto, F. [Unidad de Genetica, Valencia (Spain); Gal, A. [Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)

    1996-07-12

    PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

  2. Examining speed of processing of facial emotion recognition in individuals at ultra-high risk for psychosis

    DEFF Research Database (Denmark)

    Glenthøj, Louise Birkedal; Fagerlund, Birgitte; Bak, Nikolaj

    2018-01-01

    Emotion recognition is an aspect of social cognition that may be a key predictor of functioning and transition to psychosis in individuals at ultra-high risk (UHR) for psychosis ( Allott et al., 2014 ). UHR individuals exhibit deficits in accurately identifying facial emotions ( van Donkersgoed et...... al., 2015 ), but other potential anomalies in facial emotion recognition are largely unexplored. This study aimed to extend current knowledge on emotion recognition deficits in UHR individuals by examining: 1) whether UHR would display significantly slower facial emotion recognition than healthy...... controls, 2) whether an association between emotion recognition accuracy and emotion recognition latency is present in UHR, 3) the relationships between emotion recognition accuracy, neurocognition and psychopathology in UHR....

  3. Student Teachers' Evaluations of Slides of Children with Down Syndrome: Impact of Facial Plastic Surgery, Labelling and Factual Knowledge.

    Science.gov (United States)

    Elkabetz, R.; And Others

    1990-01-01

    This study examined the impact of facial plastic surgery, labeling (mentally retarded, normal, Down's syndrome), and level of knowledge of Down's syndrome on 127 student teachers' evaluations of slides of persons with such characteristics. Although there was no overall significant main effect for the pre-post operation condition, there was a…

  4. Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh.

    Science.gov (United States)

    Deng, Yuan; Tang, Weiwei; Li, Zhengkang

    2018-05-15

    The Tessier Number 4 cleft is one of the rarest, most complex craniofacial anomalies that presents difficulties in surgical treatment. In this article, we report a case of simultaneous facial depression, eye displacement, and medial canthus deformity. In this case, the maxillary bony defect was reconstructed using computer-assisted design computer-assisted manufacturing (CAD-CAM) polyether-ether-ketone (PEEK) material, and the orbital floor defect was repaired with AO prefabricated titanium mesh. Additionally, the medial canthus was modified with canthopexy and a single Z-plasty flap. Owing to its relative rarity and varied clinical presentations, no definitive operative methods have been accepted for Tessier No. 4 facial cleft. This study presents the combination of CAD-CAM manufactured PEEK material and titanium mesh as an alternative approach for reconstructing the bony defect of Tessier No. 4 facial clefts.

  5. Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Pabuçcu

    2012-12-01

    Full Text Available Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts, skeletal defects, umbilical hernia and mental retardation. Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. Fraser Syndrome was diagnosed according to major and minor criteria. Early antenatal detection is mandatory and clinician should be awere of the high recurrence rates of this syndrome among siblings threatening subsequent pregnancies and should inform affected families.

  6. 47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.

    Science.gov (United States)

    Ioan, D; Hîrşovescu, N; Dumitriu, L; Belengeanu, V; Muşeţeanu, P; Maximilian, C

    1985-01-01

    A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.

  7. Anaesthesia in Congenital Facial Anomalies in a Rural Set up of a Developing Country

    Directory of Open Access Journals (Sweden)

    Debasish Saha

    2015-01-01

    Full Text Available Background: India has an estimated backlog of 1000000 cleft patients. A total of 35000 new cleft patients are born each year. With the capacity to operate on approximately 50000 patients each year only 15000 patients from the national backlog can be operated upon each year if capability is not augmented. Objectives: To reach the population at large we meticulously planned an out-reach programme and operated on patients even in rural set ups with lack of modern facilities. We operated on patients at sub divisional centres, where apparatus for providing sevoflurane was not available. Institutional Ethical clearance was taken before conduction of the study. Patients who required prolonged surgery were taken to the tertiary centre. Working ventilators were also not available at peripheral centres. Materials and Methods: This interventional study was carried in a time span of four years on nineteen hundred and nine patients, after taking approval from the Institutional Ethical Committee. Patients were screened and some were operated at rural centers and others at a tertiary care centre. Patients who could not afford to come to the tertiary care centre were operated at different rural centers. Informed consent was taken. Results: There were 1909 patients with Congenital Facial Anomalies (CFA over four years period out of which 918 patients were of either unilateral or bilateral cleft lip. They were successfully operated at rural health centers with limited facilities. This could reduce the total load of surgeries for CFA at tertiary care hospital ensuring safe surgeries for all with CFA for all age groups and both genders.No mortality was recorded and post operative complications consisted of nausea and vomiting, three had delayed recovery and one had laryngospasm. Conclusion: Outreach programmes can increase the efficacy of Smile Train Project and effective screening of patients before surgery can result in fruitful outcomes even in a rural set up

  8. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies.

    Science.gov (United States)

    Dierks, C; Hoffmann, H; Heinrich, F; Hellige, M; Hewicker-Trautwein, M; Distl, O

    2017-02-01

    Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Pedigree analysis supported an X-linked recessive mode of inheritance. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Oral-facial-digital syndrome type 1: Report of a case

    Directory of Open Access Journals (Sweden)

    Peter W Duda

    2014-01-01

    Full Text Available Oral-facial-digital syndrome (OFD is a collective term describing thirteen distinctive, rare genetic disorders based on inheritance pattern and phenotypic expression. OFD is characterized by malformations of the oral cavity, the maxillofacial region and the arms and legs. Central nervous system anomalies, include intracerebral cysts, agenesis of the corpus callosum, hydrocephalus, cerebral/cerebellar atrophy, and berry aneurysms. Some degree of compromised intellectual ability and speech are present in affected individuals that correlate with the degree of central nervous system involvement. Furthermore, renal involvement in the form of polycystic kidney disease is evident in affected individuals in adulthood. In this article, we present a 37-year-old female patient that presented to the Rutgers School of Dental Medicine with oral-facial-digital syndrome, type 1.

  10. Oral?facial?digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

    OpenAIRE

    Bouman, Arjan; Alders, Mari?lle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie?Kersemaekers, Anne?Marie; van Maarle, Merel

    2017-01-01

    Oral?facial?digital syndrome type 1 (OFD1; OMIM# 311200) is an X?linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the pr...

  11. Facial Reconstruction by Biosurgery: Cell Transplantation Versus Cell Homing

    Science.gov (United States)

    Stosich, Michael S.; Moioli, Eduardo K.; Lee, Chang Hun; Fu, Susan Y.; Bastian, Barbara; Eisig, Sidney B.; Zemnick, Candice; Ascherman, Jeffrey; Wu, June; Rohde, Christine; Ahn, Jeffrey

    2010-01-01

    The face distinguishes one human being from another. When the face is disfigured because of trauma, tumor removal, congenital anomalies, or chronic diseases, the patient has a strong desire for functional and esthetic restoration. Current practice of facial reconstruction using autologous grafts, synthetic fillers, and prostheses is frequently below the surgeon's and patient's expectations. Facial reconstruction is yet to take advantage of recent advances in seemingly unrelated fields of stem cell biology, chemical engineering, biomaterials, and tissue engineering. “Biosurgery,” a new concept that we propose, will incorporate novel principles and strategies of bioactive cues, biopolymers, and/or cells to restore facial defects. Small facial defects can likely be reconstructed by cell homing and without cell transplantation. A critical advantage of cell homing is that agilely recruited endogenous cells have the potential to harness the host's innate capacity for regeneration, thus accelerating the rate of regulatory and commercialization processes for product development. Large facial defects, however, may not be restorable without cell delivery per our understanding at this time. New breakthrough in biosurgery will likely originate from integrated strategies of cell biology, cytokine biology, chemical engineering, biomaterials, and tissue engineering. Regardless of cell homing or cell delivery approaches, biosurgery not only will minimize surgical trauma and repetitive procedures, but also produce long-lasting results. At the same time, caution must be exercised against the development of products that lack scientific basis or dogmatic combination of cells, biomaterials, and biomolecules. Together, scientifically derived biosurgery will undoubtedly develop into new technologies that offer increasingly natural reconstruction and/or augmentation of the face. PMID:19891541

  12. Toward a universal, automated facial measurement tool in facial reanimation.

    Science.gov (United States)

    Hadlock, Tessa A; Urban, Luke S

    2012-01-01

    To describe a highly quantitative facial function-measuring tool that yields accurate, objective measures of facial position in significantly less time than existing methods. Facial Assessment by Computer Evaluation (FACE) software was designed for facial analysis. Outputs report the static facial landmark positions and dynamic facial movements relevant in facial reanimation. Fifty individuals underwent facial movement analysis using Photoshop-based measurements and the new software; comparisons of agreement and efficiency were made. Comparisons were made between individuals with normal facial animation and patients with paralysis to gauge sensitivity to abnormal movements. Facial measurements were matched using FACE software and Photoshop-based measures at rest and during expressions. The automated assessments required significantly less time than Photoshop-based assessments.FACE measurements easily revealed differences between individuals with normal facial animation and patients with facial paralysis. FACE software produces accurate measurements of facial landmarks and facial movements and is sensitive to paralysis. Given its efficiency, it serves as a useful tool in the clinical setting for zonal facial movement analysis in comprehensive facial nerve rehabilitation programs.

  13. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

    Science.gov (United States)

    Abidi, Kamel; Jellouli, Manel; Ben Rabeh, Rania; Hammi, Yousra; Gargah, Tahar

    2015-01-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

  14. Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

    Science.gov (United States)

    Liao, Hsiao-Mei; Niu, Dau-Ming; Chen, Yan-Jang; Fang, Jye-Siung; Chen, Shih-Jen; Chen, Chia-Hsiang

    2011-01-01

    Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of ∼ 0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.

  15. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    Science.gov (United States)

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  16. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

    Science.gov (United States)

    Ariss, Michelle; Natan, Kristina; Friedman, Neil; Traboulsi, Elias I

    2012-09-01

    Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.

  17. Sound-induced facial synkinesis following facial nerve paralysis

    NARCIS (Netherlands)

    Ma, Ming-San; van der Hoeven, Johannes H.; Nicolai, Jean-Philippe A.; Meek, Marcel F.

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two

  18. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    International Nuclear Information System (INIS)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna; Watson, Rosemarie; Irvine, Alan D.

    2011-01-01

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  19. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

    2011-09-15

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  20. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

    LENUS (Irish Health Repository)

    Bracken, Jennifer

    2012-02-01

    BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

  1. [Facial palsy].

    Science.gov (United States)

    Cavoy, R

    2013-09-01

    Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

  2. What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

    Science.gov (United States)

    Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

    2010-10-01

    Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  3. Sound-induced facial synkinesis following facial nerve paralysis.

    Science.gov (United States)

    Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

    2009-08-01

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

  4. Facial dynamics and emotional expressions in facial aging treatments.

    Science.gov (United States)

    Michaud, Thierry; Gassia, Véronique; Belhaouari, Lakhdar

    2015-03-01

    Facial expressions convey emotions that form the foundation of interpersonal relationships, and many of these emotions promote and regulate our social linkages. Hence, the facial aging symptomatological analysis and the treatment plan must of necessity include knowledge of the facial dynamics and the emotional expressions of the face. This approach aims to more closely meet patients' expectations of natural-looking results, by correcting age-related negative expressions while observing the emotional language of the face. This article will successively describe patients' expectations, the role of facial expressions in relational dynamics, the relationship between facial structures and facial expressions, and the way facial aging mimics negative expressions. Eventually, therapeutic implications for facial aging treatment will be addressed. © 2015 Wiley Periodicals, Inc.

  5. [Hemodynamic activities in children with autism while imitating emotional facial expressions: a near-infrared spectroscopy study].

    Science.gov (United States)

    Mori, Kenji; Mori, Tatsuo; Goji, Aya; Ito, Hiromichi; Toda, Yoshihiro; Fujii, Emiko; Miyazaki, Masahito; Harada, Masafumi; Kagami, Shoji

    2014-07-01

    To examine the hemodynamic activities in the frontal lobe, children with autistic disorder and matched controls underwent near-infrared spectroscopy (NIRS) while imitating emotional facial expressions. The subjects consisted of 10 boys with autistic disorder without mental retardation (9 - 14 years) and 10 normally developing boys (9 - 14 years). The concentrations of oxyhemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The increments in the concentration of oxy-Hb in this area in autistic subjects were positively correlated with the scores on a test of labeling emotional facial expressions. The pars opercularis of the inferior frontal gyrus is an important component of the mirror neuron system. The present results suggest that mirror neurons could be activated by repeated imitation in children with autistic disorder.

  6. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

    Science.gov (United States)

    Min Ko, Jung; Cho, Jae So; Yoo, Yongjin; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; Lee, Hye-Ran; Cho, Tae-Joon

    2017-02-01

    Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.

  7. Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?

    OpenAIRE

    Méhes, K

    1993-01-01

    A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases. The same features were found in their mother, but the father had no such anomalies. To our knowledge this familial association has not been described before and may represent an autosomal dominant syndrome.

  8. Esthetic dental anomalies as motive for bullying in schoolchildren.

    Science.gov (United States)

    Scheffel, Débora Lopes Salles; Jeremias, Fabiano; Fragelli, Camila Maria Bullio; Dos Santos-Pinto, Lourdes Aparecida Martins; Hebling, Josimeri; de Oliveira, Osmir Batista

    2014-01-01

    Facial esthetics, including oral esthetics, can severely affect children's quality-of-life, causing physical, social and psychological impairment. Children and adolescents with esthetic-related dental malformations are potential targets for bullies. This study was aimed to present and discuss patients who suffered from bullying at school and family environment due to esthetic-related teeth anomalies. Providing an adequate esthetic dental treatment is an important step in their rehabilitation when the lack of esthetic is the main source of bullying. After dental treatment, we noted significant improvement in self-esteem, self-confidence, socialization and academic performance of all patients and improvement in parental satisfaction regarding the appearance of their children. It is imperative that both family and school care providers be constantly alert about bullying in order to prevent or interrupt aggressive and discriminatory practices against children and adolescents. Clearly, dental anomalies may be a motive for bullying.

  9. Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

    Science.gov (United States)

    Tender, Jennifer A F; Ferreira, Carlos R

    2018-04-13

    Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

  10. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

    Directory of Open Access Journals (Sweden)

    Mohammad Khursheed Alam

    Full Text Available This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian, with the mean age of 21.54 ± 1.56 (Age range, 18-25. Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI, Malaysian Chinese (MC and Malaysian Malay (MM were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05 but no significant difference was found between races. Out of the 286 subjects, 49 (17.1% were of ideal facial shape, 156 (54.5% short and 81 (28.3% long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts.1 Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%; 2 Facial index did not depend significantly on races; 3 Significant sexual dimorphism was shown among Malaysian Chinese; 4 All three races are generally satisfied with their own facial appearance; 5 No significant association was found between golden ratio and facial evaluation score among Malaysian population.

  11. Morphological abnormalities of embryonic cranial nerves after in utero exposure to valproic acid: implications for the pathogenesis of autism with multiple developmental anomalies.

    Science.gov (United States)

    Tashiro, Yasura; Oyabu, Akiko; Imura, Yoshio; Uchida, Atsuko; Narita, Naoko; Narita, Masaaki

    2011-06-01

    Autism is often associated with multiple developmental anomalies including asymmetric facial palsy. In order to establish the etiology of autism with facial palsy, research into developmental abnormalities of the peripheral facial nerves is necessary. In the present study, to investigate the development of peripheral cranial nerves for use in an animal model of autism, rat embryos were treated with valproic acid (VPA) in utero and their cranial nerves were visualized by immunostaining. Treatment with VPA after embryonic day 9 had a significant effect on the peripheral fibers of several cranial nerves. Following VPA treatment, immunoreactivity within the trigeminal, facial, glossopharyngeal and vagus nerves was significantly reduced. Additionally, abnormal axonal pathways were observed in the peripheral facial nerves. Thus, the morphology of several cranial nerves, including the facial nerve, can be affected by prenatal VPA exposure as early as E13. Our findings indicate that disruption of early facial nerve development is involved in the etiology of asymmetric facial palsy, and may suggest a link to the etiology of autism. Copyright © 2011 ISDN. Published by Elsevier Ltd. All rights reserved.

  12. Facial Cellulitis Arising from Dens Evaginatus: A Case Report

    Directory of Open Access Journals (Sweden)

    Chun-Ming Chen

    2005-07-01

    Full Text Available Dens evaginatus is a developmental anomaly that produces a tubercle on the occlusal surface of a tooth. It is found most frequently in the mandibular premolars. The occlusal tubercle easily causes occlusal interferences. Attrition or fracture of the tubercle can lead to pulpitis, pulp necrosis, periapical pathosis, and periapical infection. This case report illustrates the treatment of facial cellulitis arising from dens evaginatus with open apex. Calcium hydroxide was used for the apexification procedure. One year after canal obturation, radiography revealed no apical pathosis and the apical seal was evident.

  13. Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

    Science.gov (United States)

    Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür

    2010-01-01

    Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338

  14. First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations.

    Science.gov (United States)

    Maithani, Tripti; Pandey, Apporva; Dey, Debraj; Bhardwaj, Aparna; Singh, V P

    2014-01-01

    First branchial cleft anomalies (FBCA) represent a small subset of congenital malformations in neck. Prime objective of this study is to share our experience with FBCA, emphasize its relevance in otolaryngology and deal with its pediatric perspective. Embryology, pathologic anatomy and varied spectra of clinical presentations of FBCA are discussed. Along with this we have illustrated three different cases; all of them were of pediatric age group and were misdiagnosed by their treating specialists elsewhere. In this article we have also laid special emphasis on its pediatric considerations. FBCA are mostly misdiagnosed due to their unfamiliar clinical signs and symptoms. Swellings may masquerade as other neck masses. Majority of patients give a history of previous incision and drainage. While dealing with pediatric patients the important factors to be kept in mind are the age of child, superficial course of facial nerve, any associated agenesis of parotid gland. Alteration in surgical technique may be required in children. A thorough medical examination with high index of clinical suspicion should be kept in mind while dealing with such anomalies. Owing to their complex presentation and close relation with facial nerve they are challenging lesions for surgeons.

  15. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

    Science.gov (United States)

    Alam, Mohammad Khursheed; Mohd Noor, Nor Farid; Basri, Rehana; Yew, Tan Fo; Wen, Tay Hui

    2015-01-01

    This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; Pmean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population.

  16. Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, G; Friedman, J M

    1986-09-01

    A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis.

  17. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

    Science.gov (United States)

    Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

    1984-09-01

    We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

  18. Facial Analysis: Looking at Biometric Recognition and Genome-Wide Association

    DEFF Research Database (Denmark)

    Fagertun, Jens

    The goal of this Ph.D. project is to present selected challenges regarding facial analysis within the fields of Human Biometrics and Human Genetics. In the course of the Ph.D. nine papers have been produced, eight of which have been included in this thesis. Three of the papers focus on face...... and gender recognition, where in the gender recognition papers the process of human perception of gender is analyzed and used to improve machine learning algorithms. One paper addresses the issues of variability in human annotation of facial landmarks, which most papers regard as a static “gold standard...... on genetic information, a new area that holds great potential. Two papers explore the connection between minor physical anomalies in the face and schizophrenic disorders. Schizophrenia is a life long disease, but early discovery and treatment can have a significant impact on the course of the disease...

  19. Traumatic facial nerve neuroma with facial palsy presenting in infancy.

    Science.gov (United States)

    Clark, James H; Burger, Peter C; Boahene, Derek Kofi; Niparko, John K

    2010-07-01

    To describe the management of traumatic neuroma of the facial nerve in a child and literature review. Sixteen-month-old male subject. Radiological imaging and surgery. Facial nerve function. The patient presented at 16 months with a right facial palsy and was found to have a right facial nerve traumatic neuroma. A transmastoid, middle fossa resection of the right facial nerve lesion was undertaken with a successful facial nerve-to-hypoglossal nerve anastomosis. The facial palsy improved postoperatively. A traumatic neuroma should be considered in an infant who presents with facial palsy, even in the absence of an obvious history of trauma. The treatment of such lesion is complex in any age group but especially in young children. Symptoms, age, lesion size, growth rate, and facial nerve function determine the appropriate management.

  20. Anomalías dentomaxilofaciales en dientes permanentes y su relación con traumas en la primera infancia Dental-maxillary-facial anomalies in permanent teeth and their relation to traumas in early childhood

    Directory of Open Access Journals (Sweden)

    Arlene Liset Corrales León

    2009-03-01

    the presence of dental-maxillary-facial anomalies in permanent teeth and the relation to traumas in early childhood. The universe of the research was comprised of 250 children and of them a sample of 60 children was chosen, giving them a form to collect data for the research. Results obtained were statistically processed through the STATISTIC automatic system and the chi-squared test in its application of kindness-adjustment and SPSS package for the proportion and comparison tests. In all cases 0, 05 was the level of significance pre-fixed. Among the most significant global results obtained, those traumas occurring between 5-6 years of age caused the greater number of dental-maxillary-facial anomalies in permanent teeth. Male sex presented the traumas that most affected permanent teeth directly. The most frequent were the hypoplasia of the enamel and other non-orthodontic entities; female sex had a greater psychosocial implication due to these anomalies. Orientations to dentists, parents and teachers were given about the relation among traumas and dental-maxillary-facial anomalies in permanent teeth.

  1. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

    Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

  2. Colesteatoma causando paralisia facial Cholesteatoma causing facial paralysis

    Directory of Open Access Journals (Sweden)

    José Ricardo Gurgel Testa

    2003-10-01

    Full Text Available A paralisia facial causada pelo colesteatoma é pouco freqüente. As porções do nervo mais acometidas são a timpânica e a região do 2º joelho. Nos casos de disseminação da lesão colesteatomatosa para o epitímpano anterior, o gânglio geniculado é o segmento do nervo facial mais sujeito à injúria. A etiopatogenia pode estar ligada à compressão do nervo pelo colesteatoma seguida de diminuição do seu suprimento vascular como também pela possível ação de substâncias neurotóxicas produzidas pela matriz do tumor ou pelas bactérias nele contidas. OBJETIVO: Avaliar a incidência, as características clínicas e o tratamento da paralisia facial decorrente da lesão colesteatomatosa. FORMA DE ESTUDO: Clínico retrospectivo. MATERIAL E MÉTODO: Estudo retrospectivo envolvendo dez casos de paralisia facial por colesteatoma selecionados através de levantamento de 206 descompressões do nervo facial com diferentes etiologias, realizadas na UNIFESP-EPM nos últimos dez anos. RESULTADOS: A incidência de paralisia facial por colesteatoma neste estudo foi de 4,85%,com predominância do sexo feminino (60%. A idade média dos pacientes foi de 39 anos. A duração e o grau da paralisia (inicial juntamente com a extensão da lesão foram importantes em relação à recuperação funcional do nervo facial. CONCLUSÃO: O tratamento cirúrgico precoce é fundamental para que ocorra um resultado funcional mais adequado. Nos casos de ruptura ou intensa fibrose do tecido nervoso, o enxerto de nervo (auricular magno/sural e/ou a anastomose hipoglosso-facial podem ser sugeridas.Facial paralysis caused by cholesteatoma is uncommon. The portions most frequently involved are horizontal (tympanic and second genu segments. When cholesteatomas extend over the anterior epitympanic space, the facial nerve is placed in jeopardy in the region of the geniculate ganglion. The aetiology can be related to compression of the nerve followed by impairment of its

  3. Vascular anomalies of the cerebellopontine angle

    International Nuclear Information System (INIS)

    Papanagiotou, P.; Grunwald, I.Q.; Politi, M.; Struffert, T.; Ahlhelm, F.; Reith, W.

    2006-01-01

    Vascular anomalies of the cerebellopontine angle are rare compared to tumors in this area. Irritation of the trigeminal, facial, or vestibulocochlear nerve may cause trigeminal neuralgia, hemifacial spasm and vertigo, or tinnitus accordingly. Vessel loops in the cerebellopontine cisterns may cause compression at the root entry or exit zone of the cranial nerves V, VII, and VIII, a phenomenon which is called ''vascular loop syndrome.'' Megadolichobasilar artery and aneurysms of the vertebrobasilar system can also lead to dislocation and compression of the cranial nerves and brain stem. Three-dimensional CISS MR imaging and MR angiography are useful in the detection of neurovascular compression. Microvascular decompression is an effective surgical procedure in the management of compression syndromes of the cranial nerves V, VII, and VIII. (orig.) [de

  4. Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

    International Nuclear Information System (INIS)

    Currarino, G.; Friedman, J.M.

    1986-01-01

    A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis. (orig.)

  5. First branchial cleft anomalies: presentation, variability and safe surgical management.

    Science.gov (United States)

    Magdy, Emad A; Ashram, Yasmine A

    2013-05-01

    First branchial cleft (FBC) anomalies are uncommon. The aim of this retrospective clinical study is to describe our experience in dealing with these sporadically reported lesions. Eighteen cases presenting with various FBC anomalies managed surgically during an 8-year period at a tertiary referral medical institution were included. Ten were males (56 %) and eight females (44 %) with age range 3-18 years. Anomaly was right-sided in 12 cases (67 %). None were bilateral. Nine patients (50 %) had prior abscess incision and drainage procedures ranging from 1 to 9 times. Two also had previous unsuccessful surgical excisions. Clinical presentations included discharging tract openings in external auditory canal/conchal bowl (n = 9), periauricular (n = 6), or upper neck (n = 4); cystic postauricular, parotid or upper neck swellings (n = 5); and eczematous scars (n = 9). Three distinct anatomical types were encountered: sinuses (n = 7), fistulas (n = 6), and cysts (n = 5). Complete surgical excision required superficial parotidectomy in 11 patients (61 %). Anomaly was deep to facial nerve (FN) in three cases (17 %), in-between its branches in two (11 %) and superficial (but sometimes adherent to the nerve) in remaining cases (72 %). Continuous intraoperative electrophysiological FN monitoring was used in all cases. Two cases had postoperative temporary lower FN paresis that recovered within 2 months. No further anomaly manifestation was observed after 49.8 months' mean postoperative follow-up (range 10-107 months). This study has shown that awareness of different presentations and readiness to identify and protect FN during surgery is essential for successful management of FBC anomalies. Intraoperative electrophysiological FN monitoring can help in that respect.

  6. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage.

    Science.gov (United States)

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh.

  7. MRI of the facial nerve in idiopathic facial palsy

    International Nuclear Information System (INIS)

    Saatci, I.; Sahintuerk, F.; Sennaroglu, L.; Boyvat, F.; Guersel, B.; Besim, A.

    1996-01-01

    The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell's palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

  8. MRI of the facial nerve in idiopathic facial palsy

    Energy Technology Data Exchange (ETDEWEB)

    Saatci, I. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sahintuerk, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sennaroglu, L. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Boyvat, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Guersel, B. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Besim, A. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey)

    1996-10-01

    The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell`s palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

  9. Facial paralysis

    Science.gov (United States)

    ... otherwise healthy, facial paralysis is often due to Bell palsy . This is a condition in which the facial ... speech, or occupational therapist. If facial paralysis from Bell palsy lasts for more than 6 to 12 months, ...

  10. Facial Sports Injuries

    Science.gov (United States)

    ... Marketplace Find an ENT Doctor Near You Facial Sports Injuries Facial Sports Injuries Patient Health Information News ... should receive immediate medical attention. Prevention Of Facial Sports Injuries The best way to treat facial sports ...

  11. Facial Cosmetic Surgery

    Science.gov (United States)

    ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ...

  12. Effect of a Facial Muscle Exercise Device on Facial Rejuvenation.

    Science.gov (United States)

    Hwang, Ui-Jae; Kwon, Oh-Yun; Jung, Sung-Hoon; Ahn, Sun-Hee; Gwak, Gyeong-Tae

    2018-01-20

    The efficacy of facial muscle exercises (FMEs) for facial rejuvenation is controversial. In the majority of previous studies, nonquantitative assessment tools were used to assess the benefits of FMEs. This study examined the effectiveness of FMEs using a Pao (MTG, Nagoya, Japan) device to quantify facial rejuvenation. Fifty females were asked to perform FMEs using a Pao device for 30 seconds twice a day for 8 weeks. Facial muscle thickness and cross-sectional area were measured sonographically. Facial surface distance, surface area, and volumes were determined using a laser scanning system before and after FME. Facial muscle thickness, cross-sectional area, midfacial surface distances, jawline surface distance, and lower facial surface area and volume were compared bilaterally before and after FME using a paired Student t test. The cross-sectional areas of the zygomaticus major and digastric muscles increased significantly (right: P jawline surface distances (right: P = 0.004, left: P = 0.003) decreased significantly after FME using the Pao device. The lower facial surface areas (right: P = 0.005, left: P = 0.006) and volumes (right: P = 0.001, left: P = 0.002) were also significantly reduced after FME using the Pao device. FME using the Pao device can increase facial muscle thickness and cross-sectional area, thus contributing to facial rejuvenation. © 2018 The American Society for Aesthetic Plastic Surgery, Inc.

  13. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, S.; Splitt, M.; Edney, S. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

    1996-06-01

    We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at {theta} = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested. 31 refs., 2 figs., 2 tabs.

  14. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

    Directory of Open Access Journals (Sweden)

    Orsini Alessandro

    2010-02-01

    Full Text Available Abstract Aims We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies. Methods The child underwent genetic (karyotype, FISH telomeres and neuroradiological (cranial CT and MRI tests, which proved to be normal. He came under our clinical observation at 3 years and 5 months of age. Due to severe psychomotor delay and facial dysmorphisms we completed the genetic investigations based on his clinical feature and analysis of the available literature. Results The presence of severe mental retardation associated with anomalous breathing pattern may suggest the Joubert and Rett syndrome, however these were excluded on the basis of clinical and genetic examination. Angelman syndrome, suspected for facial dysmorphisms and absent language, was also excluded because of the presence of a normal pattern of methylation at SNRPN locus. Another possible diagnosis was the Pitt-Hopkins Syndrome (PHS, characterized by severe mental retardation, breathing anomalies (paroxisms of hyperpnea-apnea, dysmorphisms and sometimes epilepsy. Haploinsufficiency of TCF4 gene located at 18q21.2 region has been recently identified as causative of this syndrome. In our patient the research of TCF4 mutation by the Institute of Human Genetics, University Hospital Erlangen (Germany, showed a de novo mutation. Conclusions The diagnosis of Pitt-Hopkins syndrome, an underdiagnosed cause of mental retardation, was based on clinical and genetic findings. Searching for TCF4 mutations is highly recommended when others overlapping syndromes was excluded. At our knowledge our patient is the first italian case of PHS diagnosed at molecular level.

  15. An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

    Science.gov (United States)

    Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

    2015-01-01

    The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

  16. Facial Fractures.

    Science.gov (United States)

    Ricketts, Sophie; Gill, Hameet S; Fialkov, Jeffery A; Matic, Damir B; Antonyshyn, Oleh M

    2016-02-01

    After reading this article, the participant should be able to: 1. Demonstrate an understanding of some of the changes in aspects of facial fracture management. 2. Assess a patient presenting with facial fractures. 3. Understand indications and timing of surgery. 4. Recognize exposures of the craniomaxillofacial skeleton. 5. Identify methods for repair of typical facial fracture patterns. 6. Discuss the common complications seen with facial fractures. Restoration of the facial skeleton and associated soft tissues after trauma involves accurate clinical and radiologic assessment to effectively plan a management approach for these injuries. When surgical intervention is necessary, timing, exposure, sequencing, and execution of repair are all integral to achieving the best long-term outcomes for these patients.

  17. Branchial anomalies in children: A report of 105 surgical cases.

    Science.gov (United States)

    Li, Wanpeng; Xu, Hongming; Zhao, Liming; Li, Xiaoyan

    2018-01-01

    Branchial anomalies (BAs) account for 20% of all congenital masses in children. We sought to review the incidence of involvement of individual anomalies, diagnostic methods, surgical treatment, and complications of BAs in children. In addition, we also classified our study and analyzed a congenital lower neck cutaneous fistula near the sternoclavicular joint that was thought to be the skin-side remnant of the fourth BAs. We conducted a retrospective analysis of 105 children who were referred to our hospital from June 2009 to December 2016 for the treatment of BAs. In this series, there were 51 males and 54 females. The age at the time of operation varied from 19 days to 13 years, and the mean age was 4.5 years. A total of 33 (31.4%) cases presented with first BAs, 13 (12.4%) presented with second BAs, and 59 (56.2%) presented with third and fourth BAs, including 6 cases of congenital lower neck cutaneous fistula. Fistulectomy under general anesthesia was performed on all of them. For postoperative complications, 2 cases had temporary facial paralysis, 1 case had permanent facial paralysis, 4 cases had temporary recurrent laryngeal nerve injury. Recurrence occurred in 2 patients with first BAs after medium follow-up time of 3.6 years (6 months-8 years). BAs are common congenital head and neck lesions in children, and there are four distinct types (first, second, third and fourth anomalies). The incidence of third and fourth BAs in Asia maybe higher when compared with literature reports, second BAs seem rare in this population, but more research is needed to confirm this perspective. Diagnosis is not difficult with a proper knowledge of the anatomy of the BAs. The surgical procedures should be tailored depending on the various types, and complete excision of the fistula is the key to prevent recurrence. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. The Prevalence of Cosmetic Facial Plastic Procedures among Facial Plastic Surgeons.

    Science.gov (United States)

    Moayer, Roxana; Sand, Jordan P; Han, Albert; Nabili, Vishad; Keller, Gregory S

    2018-04-01

    This is the first study to report on the prevalence of cosmetic facial plastic surgery use among facial plastic surgeons. The aim of this study is to determine the frequency with which facial plastic surgeons have cosmetic procedures themselves. A secondary aim is to determine whether trends in usage of cosmetic facial procedures among facial plastic surgeons are similar to that of nonsurgeons. The study design was an anonymous, five-question, Internet survey distributed via email set in a single academic institution. Board-certified members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) were included in this study. Self-reported history of cosmetic facial plastic surgery or minimally invasive procedures were recorded. The survey also queried participants for demographic data. A total of 216 members of the AAFPRS responded to the questionnaire. Ninety percent of respondents were male ( n  = 192) and 10.3% were female ( n  = 22). Thirty-three percent of respondents were aged 31 to 40 years ( n  = 70), 25% were aged 41 to 50 years ( n  = 53), 21.4% were aged 51 to 60 years ( n  = 46), and 20.5% were older than 60 years ( n  = 44). Thirty-six percent of respondents had a surgical cosmetic facial procedure and 75% has at least one minimally invasive cosmetic facial procedure. Facial plastic surgeons are frequent users of cosmetic facial plastic surgery. This finding may be due to access, knowledge base, values, or attitudes. By better understanding surgeon attitudes toward facial plastic surgery, we can improve communication with patients and delivery of care. This study is a first step in understanding use of facial plastic procedures among facial plastic surgeons. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  19. Reproducibility of the dynamics of facial expressions in unilateral facial palsy.

    Science.gov (United States)

    Alagha, M A; Ju, X; Morley, S; Ayoub, A

    2018-02-01

    The aim of this study was to assess the reproducibility of non-verbal facial expressions in unilateral facial paralysis using dynamic four-dimensional (4D) imaging. The Di4D system was used to record five facial expressions of 20 adult patients. The system captured 60 three-dimensional (3D) images per second; each facial expression took 3-4seconds which was recorded in real time. Thus a set of 180 3D facial images was generated for each expression. The procedure was repeated after 30min to assess the reproducibility of the expressions. A mathematical facial mesh consisting of thousands of quasi-point 'vertices' was conformed to the face in order to determine the morphological characteristics in a comprehensive manner. The vertices were tracked throughout the sequence of the 180 images. Five key 3D facial frames from each sequence of images were analyzed. Comparisons were made between the first and second capture of each facial expression to assess the reproducibility of facial movements. Corresponding images were aligned using partial Procrustes analysis, and the root mean square distance between them was calculated and analyzed statistically (paired Student t-test, PFacial expressions of lip purse, cheek puff, and raising of eyebrows were reproducible. Facial expressions of maximum smile and forceful eye closure were not reproducible. The limited coordination of various groups of facial muscles contributed to the lack of reproducibility of these facial expressions. 4D imaging is a useful clinical tool for the assessment of facial expressions. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  20. The influence of different facial components on facial aesthetics.

    NARCIS (Netherlands)

    Faure, J.C.; Rieffe, C.; Maltha, J.C.

    2002-01-01

    Facial aesthetics have an important influence on social behaviour and perception in our society. The purpose of the present study was to evaluate the effect of facial symmetry and inter-ocular distance on the assessment of facial aesthetics, factors that are often suggested as major contributors to

  1. Mondini defect in association with multiple congenital anomalies.

    Science.gov (United States)

    Sekhar, H K; Sachs, M

    1976-01-01

    A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

  2. A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

    Science.gov (United States)

    Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

    2014-01-01

    First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.

  3. A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

    Science.gov (United States)

    Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

    2014-01-01

    First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347

  4. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage

    OpenAIRE

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Background: Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Methods: Rat models of facia...

  5. Facial soft tissue analysis among various vertical facial patterns

    International Nuclear Information System (INIS)

    Jeelani, W.; Fida, M.; Shaikh, A.

    2016-01-01

    Background: The emergence of soft tissue paradigm in orthodontics has made various soft tissue parameters an integral part of the orthodontic problem list. The purpose of this study was to determine and compare various facial soft tissue parameters on lateral cephalograms among patients with short, average and long facial patterns. Methods: A cross-sectional study was conducted on the lateral cephalograms of 180 adult subjects divided into three equal groups, i.e., short, average and long face according to the vertical facial pattern. Incisal display at rest, nose height, upper and lower lip lengths, degree of lip procumbency and the nasolabial angle were measured for each individual. The gender differences for these soft tissue parameters were determined using Mann-Whitney U test while the comparison among different facial patterns was performed using Kruskal-Wallis test. Results: Significant differences in the incisal display at rest, total nasal height, lip procumbency, the nasolabial angle and the upper and lower lip lengths were found among the three vertical facial patterns. A significant positive correlation of nose and lip dimensions was found with the underlying skeletal pattern. Similarly, the incisal display at rest, upper and lower lip procumbency and the nasolabial angle were significantly correlated with the lower anterior facial height. Conclusion: Short facial pattern is associated with minimal incisal display, recumbent upper and lower lips and acute nasolabial angle while the long facial pattern is associated with excessive incisal display, procumbent upper and lower lips and obtuse nasolabial angle. (author)

  6. Dynamic Facial Prosthetics for Sufferers of Facial Paralysis

    Directory of Open Access Journals (Sweden)

    Fergal Coulter

    2011-10-01

    Full Text Available BackgroundThis paper discusses the various methods and the materialsfor the fabrication of active artificial facial muscles. Theprimary use for these will be the reanimation of paralysedor atrophied muscles in sufferers of non-recoverableunilateral facial paralysis.MethodThe prosthetic solution described in this paper is based onsensing muscle motion of the contralateral healthy musclesand replicating that motion across a patient’s paralysed sideof the face, via solid state and thin film actuators. Thedevelopment of this facial prosthetic device focused onrecreating a varying intensity smile, with emphasis ontiming, displacement and the appearance of the wrinklesand folds that commonly appear around the nose and eyesduring the expression.An animatronic face was constructed with actuations beingmade to a silicone representation musculature, usingmultiple shape-memory alloy cascades. Alongside theartificial muscle physical prototype, a facial expressionrecognition software system was constructed. This formsthe basis of an automated calibration and reconfigurationsystem for the artificial muscles following implantation, soas to suit the implantee’s unique physiognomy.ResultsAn animatronic model face with silicone musculature wasdesigned and built to evaluate the performance of ShapeMemory Alloy artificial muscles, their power controlcircuitry and software control systems. A dual facial motionsensing system was designed to allow real time control overmodel – a piezoresistive flex sensor to measure physicalmotion, and a computer vision system to evaluate real toartificial muscle performance.Analysis of various facial expressions in real subjects wasmade, which give useful data upon which to base thesystems parameter limits.ConclusionThe system performed well, and the various strengths andshortcomings of the materials and methods are reviewedand considered for the next research phase, when newpolymer based artificial muscles are constructed

  7. Facial Fractures.

    Science.gov (United States)

    Ghosh, Rajarshi; Gopalkrishnan, Kulandaswamy

    2018-06-01

    The aim of this study is to retrospectively analyze the incidence of facial fractures along with age, gender predilection, etiology, commonest site, associated dental injuries, and any complications of patients operated in Craniofacial Unit of SDM College of Dental Sciences and Hospital. This retrospective study was conducted at the Department of OMFS, SDM College of Dental Sciences, Dharwad from January 2003 to December 2013. Data were recorded for the cause of injury, age and gender distribution, frequency and type of injury, localization and frequency of soft tissue injuries, dentoalveolar trauma, facial bone fractures, complications, concomitant injuries, and different treatment protocols.All the data were analyzed using statistical analysis that is chi-squared test. A total of 1146 patients reported at our unit with facial fractures during these 10 years. Males accounted for a higher frequency of facial fractures (88.8%). Mandible was the commonest bone to be fractured among all the facial bones (71.2%). Maxillary central incisors were the most common teeth to be injured (33.8%) and avulsion was the most common type of injury (44.6%). Commonest postoperative complication was plate infection (11%) leading to plate removal. Other injuries associated with facial fractures were rib fractures, head injuries, upper and lower limb fractures, etc., among these rib fractures were seen most frequently (21.6%). This study was performed to compare the different etiologic factors leading to diverse facial fracture patterns. By statistical analysis of this record the authors come to know about the relationship of facial fractures with gender, age, associated comorbidities, etc.

  8. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

    NARCIS (Netherlands)

    Leeuw, N. de; Bulk, S.; Green, A.; Jaeckle-Santos, L.; Baker, L.A.; Zinn, A.R.; Kleefstra, T.; Smagt, J.J. van der; Vianne Morgante, A.M.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de

    2010-01-01

    We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies

  9. Content Validity of Patient-Reported Outcome Instruments used with Pediatric Patients with Facial Differences: A Systematic Review.

    Science.gov (United States)

    Wickert, Natasha M; Wong Riff, Karen W Y; Mansour, Mark; Forrest, Christopher R; Goodacre, Timothy E E; Pusic, Andrea L; Klassen, Anne F

    2018-01-01

    Objective The aim of this systematic review was to identify patient-reported outcome (PRO) instruments used in research with children/youth with conditions associated with facial differences to identify the health concepts measured. Design MEDLINE, EMBASE, CINAHL, and PsycINFO were searched from 2004 to 2016 to identify PRO instruments used in acne vulgaris, birthmarks, burns, ear anomalies, facial asymmetries, and facial paralysis patients. We performed a content analysis whereby the items were coded to identify concepts and categorized as positive or negative content or phrasing. Results A total of 7,835 articles were screened; 6 generic and 11 condition-specific PRO instruments were used in 96 publications. Condition-specific instruments were for acne (four), oral health (two), dermatology (one), facial asymmetries (two), microtia (one), and burns (one). The PRO instruments provided 554 items (295 generic; 259 condition specific) that were sorted into 4 domains, 11 subdomains, and 91 health concepts. The most common domain was psychological (n = 224 items). Of the identified items, 76% had negative content or phrasing (e.g., "Because of the way my face looks I wish I had never been born"). Given the small number of items measuring facial appearance (n = 19) and function (n = 22), the PRO instruments reviewed lacked content validity for patients whose condition impacted facial function and/or appearance. Conclusions Treatments can change facial appearance and function. This review draws attention to a problem with content validity in existing PRO instruments. Our team is now developing a new PRO instrument called FACE-Q Kids to address this problem.

  10. Fire retardant formulations

    DEFF Research Database (Denmark)

    2017-01-01

    The present invention relates to compositions where a substrate is liable to catch fire such as bituminous products, paints, carpets or the like. The invention relates to a composition comprising 40-95 weight % of a substrate to be rendered fire resistant such as bituminous material or paint......, carpets which substrate is mixed with 5-60 weight % of a fire retardant component. The invention relates to a fire retardant component comprising or being constituted of attapulgite, and a salt being a source of a blowing or expanding agent, where the attapulgite and the salt are electrostatically...... connected by mixing and subjecting the mixture of the two components to agitation. Also, the invention relates to compositions comprising 40-95 weight % of a substrate to be rendered fire resistant mixed with 5-60 weight % of a fire retardant according to claim 1 or 2, which fire retardant component...

  11. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

    Energy Technology Data Exchange (ETDEWEB)

    Arena, J.F.; Lubs, H. [Univ. of Miami School of Medicine, Miami, FL (United States); Schwartz, C. [Greenwood Genetic Center, SC (United States)] [and others

    1996-07-12

    We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson (MINI 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft palate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3{prime} end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome. 22 refs., 6 figs., 2 tabs.

  12. Adolescents with HIV and facial lipoatrophy: response to facial stimulation

    Directory of Open Access Journals (Sweden)

    Jesus Claudio Gabana-Silveira

    2014-08-01

    Full Text Available OBJECTIVES: This study evaluated the effects of facial stimulation over the superficial muscles of the face in individuals with facial lipoatrophy associated with human immunodeficiency virus (HIV and with no indication for treatment with polymethyl methacrylate. METHOD: The study sample comprised four adolescents of both genders ranging from 13 to 17 years in age. To participate in the study, the participants had to score six or less points on the Facial Lipoatrophy Index. The facial stimulation program used in our study consisted of 12 weekly 30-minute sessions during which individuals received therapy. The therapy consisted of intra- and extra-oral muscle contraction and stretching maneuvers of the zygomaticus major and minor and the masseter muscles. Pre- and post-treatment results were obtained using anthropometric static measurements of the face and the Facial Lipoatrophy Index. RESULTS: The results suggest that the therapeutic program effectively improved the volume of the buccinators. No significant differences were observed for the measurements of the medial portion of the face, the lateral portion of the face, the volume of the masseter muscle, or Facial Lipoatrophy Index scores. CONCLUSION: The results of our study suggest that facial maneuvers applied to the superficial muscles of the face of adolescents with facial lipoatrophy associated with HIV improved the facial area volume related to the buccinators muscles. We believe that our results will encourage future research with HIV patients, especially for patients who do not have the possibility of receiving an alternative aesthetic treatment.

  13. A facial marker in facial wasting rehabilitation.

    Science.gov (United States)

    Rauso, Raffaele; Tartaro, Gianpaolo; Freda, Nicola; Rusciani, Antonio; Curinga, Giuseppe

    2012-02-01

    Facial lipoatrophy is one of the most distressing manifestation for HIV patients. It can be stigmatizing, severely affecting quality of life and self-esteem, and it may result in reduced antiretroviral adherence. Several filling techniques have been proposed in facial wasting restoration, with different outcomes. The aim of this study is to present a triangular area that is useful to fill in facial wasting rehabilitation. Twenty-eight HIV patients rehabilitated for facial wasting were enrolled in this study. Sixteen were rehabilitated with a non-resorbable filler and twelve with structural fat graft harvested from lipohypertrophied areas. A photographic pre-operative and post-operative evaluation was performed by the patients and by two plastic surgeons who were "blinded." The filled area, in both patients rehabilitated with structural fat grafts or non-resorbable filler, was a triangular area of depression identified between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks. The cosmetic result was evaluated after three months after the last filling procedure in the non-resorbable filler group and after three months post-surgery in the structural fat graft group. The mean patient satisfaction score was 8.7 as assessed with a visual analogue scale. The mean score for blinded evaluators was 7.6. In this study the authors describe a triangular area of the face, between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks, where a good aesthetic facial restoration in HIV patients with facial wasting may be achieved regardless of which filling technique is used.

  14. [Facial nerve neurinomas].

    Science.gov (United States)

    Sokołowski, Jacek; Bartoszewicz, Robert; Morawski, Krzysztof; Jamróz, Barbara; Niemczyk, Kazimierz

    2013-01-01

    Evaluation of diagnostic, surgical technique, treatment results facial nerve neurinomas and its comparison with literature was the main purpose of this study. Seven cases of patients (2005-2011) with facial nerve schwannomas were included to retrospective analysis in the Department of Otolaryngology, Medical University of Warsaw. All patients were assessed with history of the disease, physical examination, hearing tests, computed tomography and/or magnetic resonance imaging, electronystagmography. Cases were observed in the direction of potential complications and recurrences. Neurinoma of the facial nerve occurred in the vertical segment (n=2), facial nerve geniculum (n=1) and the internal auditory canal (n=4). The symptoms observed in patients were analyzed: facial nerve paresis (n=3), hearing loss (n=2), dizziness (n=1). Magnetic resonance imaging and computed tomography allowed to confirm the presence of the tumor and to assess its staging. Schwannoma of the facial nerve has been surgically removed using the middle fossa approach (n=5) and by antromastoidectomy (n=2). Anatomical continuity of the facial nerve was achieved in 3 cases. In the twelve months after surgery, facial nerve paresis was rated at level II-III° HB. There was no recurrence of the tumor in radiological observation. Facial nerve neurinoma is a rare tumor. Currently surgical techniques allow in most cases, the radical removing of the lesion and reconstruction of the VII nerve function. The rate of recurrence is low. A tumor of the facial nerve should be considered in the differential diagnosis of nerve VII paresis. Copyright © 2013 Polish Otorhinolaryngology - Head and Neck Surgery Society. Published by Elsevier Urban & Partner Sp. z.o.o. All rights reserved.

  15. Contralateral botulinum toxin injection to improve facial asymmetry after acute facial paralysis.

    Science.gov (United States)

    Kim, Jin

    2013-02-01

    The application of botulinum toxin to the healthy side of the face in patients with long-standing facial paralysis has been shown to be a minimally invasive technique that improves facial symmetry at rest and during facial motion, but our experience using botulinum toxin therapy for facial sequelae prompted the idea that botulinum toxin might be useful in acute cases of facial paralysis, leading to improve facial asymmetry. In cases in which medical or surgical treatment options are limited because of existing medical problems or advanced age, most patients with acute facial palsy are advised to await spontaneous recovery or are informed that no effective intervention exists. The purpose of this study was to evaluate the effect of botulinum toxin treatment for facial asymmetry in 18 patients after acute facial palsy who could not be optimally treated by medical or surgical management because of severe medical or other problems. From 2009 to 2011, nine patients with Bell's palsy, 5 with herpes zoster oticus and 4 with traumatic facial palsy (10 men and 8 women; age range, 22-82 yr; mean, 50.8 yr) participated in this study. Botulinum toxin A (Botox; Allergan Incorporated, Irvine, CA, USA) was injected using a tuberculin syringe with a 27-gauge needle. The amount injected per site varied from 2.5 to 3 U, and the total dose used per patient was 32 to 68 U (mean, 47.5 +/- 8.4 U). After administration of a single dose of botulinum toxin A on the nonparalyzed side of 18 patients with acute facial paralysis, marked relief of facial asymmetry was observed in 8 patients within 1 month of injection. Decreased facial asymmetry and strengthened facial function on the paralyzed side led to an increased HB and SB grade within 6 months after injection. Use of botulinum toxin after acute facial palsy cases is of great value. Such therapy decreases the relative hyperkinesis contralateral to the paralysis, leading to greater symmetric function. Especially in patients with medical

  16. Rejuvenecimiento facial

    Directory of Open Access Journals (Sweden)

    L. Daniel Jacubovsky, Dr.

    2010-01-01

    Full Text Available El envejecimiento facial es un proceso único y particular a cada individuo y está regido en especial por su carga genética. El lifting facial es una compleja técnica desarrollada en nuestra especialidad desde principios de siglo, para revertir los principales signos de este proceso. Los factores secundarios que gravitan en el envejecimiento facial son múltiples y por ello las ritidectomías o lifting cérvico faciales descritas han buscado corregir los cambios fisonómicos del envejecimiento excursionando, como se describe, en todos los planos tisulares involucrados. Esta cirugía por lo tanto, exige conocimiento cabal de la anatomía quirúrgica, pericia y experiencia para reducir las complicaciones, estigmas quirúrgicos y revisiones secundarias. La ridectomía facial ha evolucionado hacia un procedimiento más simple, de incisiones más cortas y disecciones menos extensas. Las suspensiones musculares han variado en su ejecución y los vectores de montaje y resección cutánea son cruciales en los resultados estéticos de la cirugía cérvico facial. Hoy estos vectores son de tracción más vertical. La corrección de la flaccidez va acompañada de un interés en reponer el volumen de la superficie del rostro, en especial el tercio medio. Las técnicas quirúrgicas de rejuvenecimiento, en especial el lifting facial, exigen una planificación para cada paciente. Las técnicas adjuntas al lifting, como blefaroplastias, mentoplastía, lipoaspiración de cuello, implantes faciales y otras, también han tenido una positiva evolución hacia la reducción de riesgos y mejor éxito estético.

  17. Quantitative facial asymmetry: using three-dimensional photogrammetry to measure baseline facial surface symmetry.

    Science.gov (United States)

    Taylor, Helena O; Morrison, Clinton S; Linden, Olivia; Phillips, Benjamin; Chang, Johnny; Byrne, Margaret E; Sullivan, Stephen R; Forrest, Christopher R

    2014-01-01

    Although symmetry is hailed as a fundamental goal of aesthetic and reconstructive surgery, our tools for measuring this outcome have been limited and subjective. With the advent of three-dimensional photogrammetry, surface geometry can be captured, manipulated, and measured quantitatively. Until now, few normative data existed with regard to facial surface symmetry. Here, we present a method for reproducibly calculating overall facial symmetry and present normative data on 100 subjects. We enrolled 100 volunteers who underwent three-dimensional photogrammetry of their faces in repose. We collected demographic data on age, sex, and race and subjectively scored facial symmetry. We calculated the root mean square deviation (RMSD) between the native and reflected faces, reflecting about a plane of maximum symmetry. We analyzed the interobserver reliability of the subjective assessment of facial asymmetry and the quantitative measurements and compared the subjective and objective values. We also classified areas of greatest asymmetry as localized to the upper, middle, or lower facial thirds. This cluster of normative data was compared with a group of patients with subtle but increasing amounts of facial asymmetry. We imaged 100 subjects by three-dimensional photogrammetry. There was a poor interobserver correlation between subjective assessments of asymmetry (r = 0.56). There was a high interobserver reliability for quantitative measurements of facial symmetry RMSD calculations (r = 0.91-0.95). The mean RMSD for this normative population was found to be 0.80 ± 0.24 mm. Areas of greatest asymmetry were distributed as follows: 10% upper facial third, 49% central facial third, and 41% lower facial third. Precise measurement permitted discrimination of subtle facial asymmetry within this normative group and distinguished norms from patients with subtle facial asymmetry, with placement of RMSDs along an asymmetry ruler. Facial surface symmetry, which is poorly assessed

  18. Surgical management of first branchial cleft anomaly presenting as infected retroauricular mass using a microscopic dissection technique.

    Science.gov (United States)

    Chan, Kai-Chieh; Chao, Wei-Chieh; Wu, Che-Ming

    2012-01-01

    This is a detailed description of the clinical and anatomical presentation of the first branchial cleft anomaly presenting as retroauricular infected mass. Our experience with a microscopic dissection with control of the sinus lumen from within the cyst is also described. Between 2001 and 2008, patients with the final histologic diagnosis of first branchial cleft anomaly in the retroauricular area were managed with a microscopic dissection technique with control of the sinus lumen from within the cyst. Classifications were done in accordance with Work, Olsen, and Chilla. Outcomes measured intervention as a function of disease recurrence and complications including facial nerve function was used. Eight patients with a mean age of 14.2 years were enrolled, and this included 4 females and 4 males. Four type 1 and 4 type 2 lesions as per the Work's and Chilla's classification were found, and there were 5 sinuses, 2 fistulae, and 1 cyst according to Olsen's classification. All patients presented to the department with acute infection at the time of diagnosis. Five of the 8 patients had previous surgical treatment, 2 of those had up to 3 previous operations. None of the patients were complicated by disease recurrence or had surgical related complications (facial nerve paresis or paralysis, infection, canal stenosis) requiring reoperation with more than 1 year of follow-up. First branchial cleft anomaly presenting as retroauricular infected mass can be effectively treated by adopting a microscopic dissection technique with control of the sinus lumen from within the cyst. Copyright © 2012 Elsevier Inc. All rights reserved.

  19. Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography Anomalias de sistema nervoso central em defeitos de linha média facial com hipertelorismo detectados por ressonância magnética e tomografia computadorizada

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Gil-da-Silva-Lopes

    2006-12-01

    Full Text Available The aim of this study were to describe and to compare structural central nervous system (CNS anomalies detected by magnetic resonance image (MRI and computed tomography (CT in individuals affected by midline facial defects with hypertelorism (MFDH isolated or associated with multiple congenital anomalies (MCA. The investigation protocol included dysmorphological examination, skull and facial X-rays, brain CT and/or MRI. We studied 24 individuals, 12 of them had an isolated form (Group I and the others, MCA with unknown etiology (Group II. There was no significative difference between Group I and II and the results are presented in set. In addition to the several CNS anomalies previously described, MRI (n=18 was useful for detection of neuronal migration errors. These data suggested that structural CNS anomalies and MFDH seem to have an intrinsic embryological relationship, which should be taken in account during the clinical follow-up.Este estudo objetivou descrever e comparar as anomalias estruturais do sistema nervoso central (SNC detectadas por meio de ressonância magnética (RM e tomografia computadorizada (TC de crânio em indivíduos com defeitos de linha média facial com hipertelorismo (DLMFH isolados ou associados a anomalias congênitas múltiplas (ACM. O protocolo de investigação incluiu exame dismorfológico, RX de crânio e face, CT e RM de crânio. Foram estudados 24 indivíduos, sendo que 12 apresentavam a forma isolada (Grupo I e os demais, DLMFH com ACM de etiologia não esclarecida (Grupo II. Não houve diferença entre os dois grupos e os resultados foram agrupados. Além de várias anomalias de SNC já descritas, a RM foi útil para detecção de erros de migração neuronal. Os dados sugerem que as alterações estruturais de SNC e os DLMFH têm relação embriológica, o que deve ser levado em conta durante o seguimento clínico.

  20. FMR1 Knockout mice: A model to study fragile X mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Oostra, B.A.; Bakker, C.E.; Reyniers, E. [Erasmus Univ., Rotterdam (Netherlands)] [and others

    1994-09-01

    The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence of 1 in 1250 males and 1 in 2500 females. The clinical syndrome includes moderate to severe mental retardation, autistic behavior, macroorchidism, and facial features, such as long face with mandibular prognathism and large, everted ears. The molecular basis for this disease is a large expansion of a triplet repeat (CGG){sub n} in the 5{prime} untranslated region of the FMR1 gene. Due to this large expansion of the CGG repeat, the promoter region becomes methylated and the FMR1 gene is subsequently silenced. Hardly anything is known about the physiologic function of FMR1 and the pathologic mechanisms leading to these symptoms. Since the FMR1 gene is highly conserved in the mouse, we used the mouse to design a knockout model for the fragile X syndrome. These knockout mice lacking Fmrp have normal litter size suggesting that FMR1 is not essential in human gametogenesis and embryonic development. The knockout mice show the abnormalities also seen in the affected organs of human patients. Mutant mice show a gradual development through time of macroorchidism. In the knockout mice we observed cognitive defects in the form of deficits in learning (as shown by the hidden platform Morris water maze task) and behavioral abnormalities such as increased exploratory behavior and hyperactivity. Therefore this knockout mouse may serve as a valuable tool in studying the role of FMR1 in the fragile X syndrome and may serve as a model to elucidate the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.

  1. Asians' Facial Responsiveness to Basic Tastes by Automated Facial Expression Analysis System.

    Science.gov (United States)

    Zhi, Ruicong; Cao, Lianyu; Cao, Gang

    2017-03-01

    Growing evidence shows that consumer choices in real life are mostly driven by unconscious mechanisms rather than conscious. The unconscious process could be measured by behavioral measurements. This study aims to apply automatic facial expression analysis technique for consumers' emotion representation, and explore the relationships between sensory perception and facial responses. Basic taste solutions (sourness, sweetness, bitterness, umami, and saltiness) with 6 levels plus water were used, which could cover most of the tastes found in food and drink. The other contribution of this study is to analyze the characteristics of facial expressions and correlation between facial expressions and perceptive hedonic liking for Asian consumers. Up until now, the facial expression application researches only reported for western consumers, while few related researches investigated the facial responses during food consuming for Asian consumers. Experimental results indicated that facial expressions could identify different stimuli with various concentrations and different hedonic levels. The perceived liking increased at lower concentrations and decreased at higher concentrations, while samples with medium concentrations were perceived as the most pleasant except sweetness and bitterness. High correlations were founded between perceived intensities of bitterness, umami, saltiness, and facial reactions of disgust and fear. Facial expression disgust and anger could characterize emotion "dislike," and happiness could characterize emotion "like," while neutral could represent "neither like nor dislike." The identified facial expressions agree with the perceived sensory emotions elicited by basic taste solutions. The correlation analysis between hedonic levels and facial expression intensities obtained in this study are in accordance with that discussed for western consumers. © 2017 Institute of Food Technologists®.

  2. Effects of a child with a craniofacial anomaly on stability of the parental relationship.

    Science.gov (United States)

    St John, Dane; Pai, Lori; Belfer, Myron L; Mulliken, John B

    2003-09-01

    The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly contributed to divorce, and involvement in the child's welfare. Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Surveys were sent to both parents in 412 families; 403 surveys were returned; and the results were evaluated in 275 families (67%). Frequency analysis demonstrated an overall divorce rate of 6.8% and 4.9% separation. Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8%). 79% of non-divorced couples reported a strong prenatal relationship, whereas 59% of divorced couples reported a problematic relationship. Following birth of the affected child, 47% of non-divorced couples responded that the bonds became stronger and 41% of divorced couples thought the relationship worsened. Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates of divorce. Separation of anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no significant difference in divorce rate (p>.05). The mother was more likely to become a child's primary caregiver

  3. Acromegaly determination using discriminant analysis of the three-dimensional facial classification in Taiwanese.

    Science.gov (United States)

    Wang, Ming-Hsu; Lin, Jen-Der; Chang, Chen-Nen; Chiou, Wen-Ko

    2017-08-01

    The aim of this study was to assess the size, angles and positional characteristics of facial anthropometry between "acromegalic" patients and control subjects. We also identify possible facial soft tissue measurements for generating discriminant functions toward acromegaly determination in males and females for acromegaly early self-awareness. This is a cross-sectional study. Subjects participating in this study included 70 patients diagnosed with acromegaly (35 females and 35 males) and 140 gender-matched control individuals. Three-dimensional facial images were collected via a camera system. Thirteen landmarks were selected. Eleven measurements from the three categories were selected and applied, including five frontal widths, three lateral depths and three lateral angular measurements. Descriptive analyses were conducted using means and standard deviations for each measurement. Univariate and multivariate discriminant function analyses were applied in order to calculate the accuracy of acromegaly detection. Patients with acromegaly exhibit soft-tissue facial enlargement and hypertrophy. Frontal widths as well as lateral depth and angle of facial changes were evident. The average accuracies of all functions for female patient detection ranged from 80.0-91.40%. The average accuracies of all functions for male patient detection were from 81.0-94.30%. The greatest anomaly observed was evidenced in the lateral angles, with greater enlargement of "nasofrontal" angles for females and greater "mentolabial" angles for males. Additionally, shapes of the lateral angles showed changes. The majority of the facial measurements proved dynamic for acromegaly patients; however, it is problematic to detect the disease with progressive body anthropometric changes. The discriminant functions of detection developed in this study could help patients, their families, medical practitioners and others to identify and track progressive facial change patterns before the possible patients

  4. Facial exercises for facial rejuvenation: a control group study.

    Science.gov (United States)

    De Vos, Marie-Camille; Van den Brande, Helen; Boone, Barbara; Van Borsel, John

    2013-01-01

    Facial exercises are a noninvasive alternative to medical approaches to facial rejuvenation. Logopedists could be involved in providing these exercises. Little research has been conducted, however, on the effectiveness of exercises for facial rejuvenation. This study assessed the effectiveness of 4 exercises purportedly reducing wrinkles and sagging of the facial skin. A control group study was conducted with 18 participants, 9 of whom (the experimental group) underwent daily training for 7 weeks. Pictures taken before and after 7 weeks of 5 facial areas (forehead, nasolabial folds, area above the upper lip, jawline and area under the chin) were evaluated by a panel of laypersons. In addition, the participants of the experimental group evaluated their own pictures. Evaluation included the pairwise presentation of pictures before and after 7 weeks and scoring of the same pictures by means of visual analogue scales in a random presentation. Only one significant difference was found between the control and experimental group. In the experimental group, the picture after therapy of the upper lip was more frequently chosen to be the younger-looking one by the panel. It cannot be concluded that facial exercises are effective. More systematic research is needed. © 2013 S. Karger AG, Basel.

  5. Avaliação comparativa entre agradabilidade facial e análise subjetiva do Padrão Facial Comparative evaluation among facial attractiveness and subjective analysis of Facial Pattern

    Directory of Open Access Journals (Sweden)

    Olívia Morihisa

    2009-12-01

    Full Text Available OBJETIVO: estudar duas análises subjetivas faciais utilizadas para o diagnóstico ortodôntico, avaliação da agradabilidade facial e definição de Padrão Facial, e verificar a associação existente entre elas. MÉTODOS: utilizou-se 208 fotografias faciais padronizadas (104 laterais e 104 frontais de 104 indivíduos escolhidos aleatoriamente, as quais foram submetidas à avaliação da agradabilidade por dois grupos distintos (Grupo " Ortodontia" e Grupo " Leigos" , que classificaram os indivíduos em " agradável" , " aceitável" ou " desagradável" . Os indivíduos também foram classificados quanto ao Padrão Facial por três examinadores calibrados, utilizando-se apenas a vista lateral. RESULTADOS E CONCLUSÃO: após a análise estatística, verificou-se que houve associação fortemente positiva entre a agradabilidade facial e o Padrão Facial para a norma lateral, porém não para a frontal, em que os indivíduos tenderam a ser bem classificados mesmo no Padrão II.AIM: To study two subjective facial analysis commonly used on orthodontic diagnosis and to verify the association between the evaluation of facial attractiveness and Facial Pattern definition. METHODS: Two hundred and eight standardized face photographs (104 in lateral view and 104 in frontal view of 104 randomly chosen individuals were used in the present study. They were classified as " pleasant" , " acceptable" and " not pleasant" by two distinct groups: " Lay people" and " Orthodontists" . The individuals were either classified according to their Facial Pattern using lateral view images. RESULTS AND CONCLUSION: After statistical analysis, it was noted a strong positive concordance between facial attractiveness in lateral view and Facial Pattern, however, frontal view attractiveness classification did not have good concordance with Facial Pattern, tending to have good attractiveness classification even in Facial Pattern II.

  6. COLOUR LEARNING IN RETARDED CHILDREN*

    African Journals Online (AJOL)

    COLOUR LEARNING IN RETARDED CHILDREN* !\\'fRS E. K~SEBOOM, Principal, ADS. LEVIN, M.B., M.R.C.P., D.C.H., Hon. Medical Officer, Hamlet B School for. Retarded Children, Johannesburg. '... silly children, with no understanding .. -'. Jeremiah 4:22. Tt has been observed' that mentally retarded children have.

  7. Facial trauma.

    Science.gov (United States)

    Peeters, N; Lemkens, P; Leach, R; Gemels B; Schepers, S; Lemmens, W

    Facial trauma. Patients with facial trauma must be assessed in a systematic way so as to avoid missing any injury. Severe and disfiguring facial injuries can be distracting. However, clinicians must first focus on the basics of trauma care, following the Advanced Trauma Life Support (ATLS) system of care. Maxillofacial trauma occurs in a significant number of severely injured patients. Life- and sight-threatening injuries must be excluded during the primary and secondary surveys. Special attention must be paid to sight-threatening injuries in stabilized patients through early referral to an appropriate specialist or the early initiation of emergency care treatment. The gold standard for the radiographic evaluation of facial injuries is computed tomography (CT) imaging. Nasal fractures are the most frequent isolated facial fractures. Isolated nasal fractures are principally diagnosed through history and clinical examination. Closed reduction is the most frequently performed treatment for isolated nasal fractures, with a fractured nasal septum as a predictor of failure. Ear, nose and throat surgeons, maxillofacial surgeons and ophthalmologists must all develop an adequate treatment plan for patients with complex maxillofacial trauma.

  8. Research on flame retardation of wool fibers

    International Nuclear Information System (INIS)

    Enomoto, Ichiro; Ametani, Kazuo; Sawai, Takeshi

    1990-01-01

    Flame retardant, vinyl phosphonate oligomer, was uniformly impregnated in wool fibers, and by irradiating low energy electron beam or cobalt-60 gamma ray, the flame retardation of fabrics was attempted, as the results, the following knowledges were obtained. At the rate of sticking of flame retardant lower than that in cotton fabrics, sufficient flame retarding property can be given. The flame retarding property withstands 30 times of washing. The lowering of strength due to the processing hardly arose. For the flame retardation, gamma-ray was more effective than electron beam. Since the accidents of burning clothes have occurred frequently, their flame retardation has been demanded. So far the flame retardation of cotton fabrics has been advanced, but this time the research on the flame retardation of wool fabrics was carried out by the same method. The experimental method is explained. As for the performance of the processed fabrics, the rate of sticking of the flame retardant, the efficiency of utilization, the flame retarding property, the endurance in washing and the tensile and tearing strength were examined. As the oxygen index was higher, the flame retarding property was higher, and in the case of the index being more than 27, the flame retarding property is sufficient, that is, the rate of sticking of 6% in serge and 5% in muslin. (K.I.)

  9. Flame retardancy and thermal degradation of cotton textiles based on UV-curable flame retardant coatings

    Energy Technology Data Exchange (ETDEWEB)

    Xing, Weiyi [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Suzhou Institute for Advanced Study, University of Science and Technology of China, 166 Ren' ai Road, Suzhou, Jiangsu 215123 (China); Jie, Ganxin [State Key Laboratory of Environmental Adaptability for Industrial Products, China National Electric Apparatus Research Institute, Guangzhou 510300 (China); Song, Lei; Hu, Shuang; Lv, Xiaoqi; Wang, Xin [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Hu, Yuan, E-mail: yuanhu@ustc.edu.cn [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Suzhou Institute for Advanced Study, University of Science and Technology of China, 166 Ren' ai Road, Suzhou, Jiangsu 215123 (China)

    2011-01-20

    The flame retardant coatings were prepared through UV-curable technique using tri(acryloyloxyethyl) phosphate (TAEP) and triglycidyl isocyanurate acrylate (TGICA). Results from FTIR-ATR spectroscopy and scanning electron microscopy (SEM) showed that flame retardant coatings were successfully coated onto the surface of cotton fabrics. The flame retardancy of the treated fabrics was studied by Micro-scale Combustion Calorimeter (MCC) and limited oxygen index (LOI). The cottons coated flame retardant coatings had the lower peak heat release rate (PHRR), heat release capacity (HRC), total heat of combustion (THC) and higher LOI value compared with untreated cotton. The results from TGA test showed that the flame retardant coatings lowered the decomposition temperature of treated fabric. The thermal decomposition of cottons was monitored by real time FTIR analysis and thermogravimetric analysis/infrared spectrometry (TGA-IR). The enhanced flame retardant action might be caused by thermal decomposition of TAEP structure, producing acidic intermediates, which could react with fabrics to alter its thermal decomposition process.

  10. Examination of craniofacial bones associated with auricular anomaly using three-dimensional computer tomography

    International Nuclear Information System (INIS)

    Ono, Ichiro; Ohura, Takehiko; Iwao, Fumiya

    1989-01-01

    Three-dimensional computer tomography (3D-CT) was performed in 60 patients with auricular anomaly to determine the site and severity of deformity in the hemifacial microsomia. Auricular anomaly, underdevelopment and malposition of the cranium, temporo-mandibular joint, zygoma, maxilla and mandible were observed in almost all of the patients; however, the severity of these malformations varied from patient to patient. Regarding severest deformity, there were positional differences among patients. According to impairment sites, hemifacial microsomia fell into the following five types: (1) cranium type, (2) maxillary alveolar process type, (3) localized mandibular ramus type, (4) overall mandibular type, and (5) complex type (combination of the aforementioned types). Facial asymmetry accompanied by auricular anomaly was associated with various pathologic conditions. The temporomandibular joint was often deviated towards the anteromedial side for localized mandibular ramus type and overall mandibular type. Posterial deviation was predominant for cranium type. In patients with hemifacial microsomia of the cranium type associated with protrusion mainly in the occipital region on the affected side, deformity was considered attributable to underdevelopment of the temporal bone and delay in closure of the temporo-occipital suture. The deformity for cranium type may be defined as the second branchial syndrome. In conclusion, hemifacial microsomia have various deformities and may fall into five categories. Craniofacial microsomia and hemi-auriculo-temporo-mandibular dysplastic syndrome give a more precise concept for auricular anomaly. (N.K.)

  11. Examination of craniofacial bones associated with auricular anomaly using three-dimensional computer tomography

    Energy Technology Data Exchange (ETDEWEB)

    Ono, Ichiro; Ohura, Takehiko; Iwao, Fumiya (Hokkaido Univ., Sapporo (Japan). School of Medicine) (and others)

    1989-07-01

    Three-dimensional computer tomography (3D-CT) was performed in 60 patients with auricular anomaly to determine the site and severity of deformity in the hemifacial microsomia. Auricular anomaly, underdevelopment and malposition of the cranium, temporo-mandibular joint, zygoma, maxilla and mandible were observed in almost all of the patients; however, the severity of these malformations varied from patient to patient. Regarding severest deformity, there were positional differences among patients. According to impairment sites, hemifacial microsomia fell into the following five types: (1) cranium type, (2) maxillary alveolar process type, (3) localized mandibular ramus type, (4) overall mandibular type, and (5) complex type (combination of the aforementioned types). Facial asymmetry accompanied by auricular anomaly was associated with various pathologic conditions. The temporomandibular joint was often deviated towards the anteromedial side for localized mandibular ramus type and overall mandibular type. Posterial deviation was predominant for cranium type. In patients with hemifacial microsomia of the cranium type associated with protrusion mainly in the occipital region on the affected side, deformity was considered attributable to underdevelopment of the temporal bone and delay in closure of the temporo-occipital suture. The deformity for cranium type may be defined as the second branchial syndrome. In conclusion, hemifacial microsomia have various deformities and may fall into five categories. Craniofacial microsomia and hemi-auriculo-temporo-mandibular dysplastic syndrome give a more precise concept for auricular anomaly. (N.K.).

  12. An analysis of facial nerve function in irradiated and unirradiated facial nerve grafts

    International Nuclear Information System (INIS)

    Brown, Paul D.; Eshleman, Jeffrey S.; Foote, Robert L.; Strome, Scott E.

    2000-01-01

    Purpose: The effect of high-dose radiation therapy on facial nerve grafts is controversial. Some authors believe radiotherapy is so detrimental to the outcome of facial nerve graft function that dynamic or static slings should be performed instead of facial nerve grafts in all patients who are to receive postoperative radiation therapy. Unfortunately, the facial function achieved with dynamic and static slings is almost always inferior to that after facial nerve grafts. In this retrospective study, we compared facial nerve function in irradiated and unirradiated nerve grafts. Methods and Materials: The medical records of 818 patients with neoplasms involving the parotid gland who received treatment between 1974 and 1997 were reviewed, of whom 66 underwent facial nerve grafting. Fourteen patients who died or had a recurrence less than a year after their facial nerve graft were excluded. The median follow-up for the remaining 52 patients was 10.6 years. Cable nerve grafts were performed in 50 patients and direct anastomoses of the facial nerve in two. Facial nerve function was scored by means of the House-Brackmann (H-B) facial grading system. Twenty-eight of the 52 patients received postoperative radiotherapy. The median time from nerve grafting to start of radiotherapy was 5.1 weeks. The median and mean doses of radiation were 6000 and 6033 cGy, respectively, for the irradiated grafts. One patient received preoperative radiotherapy to a total dose of 5000 cGy in 25 fractions and underwent surgery 1 month after the completion of radiotherapy. This patient was placed, by convention, in the irradiated facial nerve graft cohort. Results: Potential prognostic factors for facial nerve function such as age, gender, extent of surgery at the time of nerve grafting, preoperative facial nerve palsy, duration of preoperative palsy if present, or number of previous operations in the parotid bed were relatively well balanced between irradiated and unirradiated patients. However

  13. Efecto del retardo prenatal de crecimiento y la subnutrición postnatal en el crecimiento craneofacial / Craneofacial effect of prenatal growth retardation and postnatal undernutrition in craniofacial growth

    Directory of Open Access Journals (Sweden)

    María Eugenia Luna

    2016-03-01

    Full Text Available El objetivo fue analizar en animales con retardo prenatal de crecimiento (RPC el efecto de la subnutrición proteico-calórica lactacional y postlactacional sobre la morfología craneofacial, particularizando en el crecimiento de los componentes funcionales neural y facial. Ratas Wistar fueron divididas en los grupos: Control, RPC (inducido por ligamiento parcial de ambas arterias uterinas el día 15 de gestación y Sham-operado (con igual técnica quirúrgica que RPC aunque sin ligamiento de las arterias. A su vez, el grupo RPC se dividió en: (a crías lactantes de madres con nutrición normal y a partir del destete alimentadas ad-libitum y (b crías lactantes de madres con restricción alimentaria del 25% y a partir del destete alimentadas con el 50% de lo consumido por un animal control. Se tomaron radiografías a las edades 1, 21, 42, 63 y 84 y se midieron longitud, ancho y altura de los componentes neural y facial. Se calcularon los índices volumétricos neural y facial y morfométrico neurofacial. Se aplicaron ANOVA y pruebas post-hoc y se calcularon diferencias porcentuales entre medias. Los resultados permitieron concluir que el estrés primario ocurrido durante la vida intrauterina resulta crítico en lo inmediato y en la vida postnatal, ya que aun mediando normonutrición postnatal el retardo de crecimiento perdura. Además, cuando al estrés prenatal le continúa restricción nutricional postnatal los efectos adversos son aditivos provocando retardo del crecimiento aún mayor. Finalmente, mientras que el componente neural es más resistente a las deficiencias nutricionales, el facial presenta mayor plasticidad, hecho que se evidencia en cambios de forma. Palabras clave: crecimiento craneofacial; desnutrición pre y postnatal; craneometría funcional    The aim of the study was to analyze the effect of protein-calorie malnutrition during lactation and post-lactation on craniofacial morphology in intrauterine growth-retarded (IUGR

  14. Facial Expression Recognition

    NARCIS (Netherlands)

    Pantic, Maja; Li, S.; Jain, A.

    2009-01-01

    Facial expression recognition is a process performed by humans or computers, which consists of: 1. Locating faces in the scene (e.g., in an image; this step is also referred to as face detection), 2. Extracting facial features from the detected face region (e.g., detecting the shape of facial

  15. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

    Directory of Open Access Journals (Sweden)

    Radoslava Vazharova

    2016-01-01

    Full Text Available Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.. The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.

  16. Risk of congenital anomalies in the vicinity of municipal solid waste incinerators.

    Science.gov (United States)

    Cordier, S; Chevrier, C; Robert-Gnansia, E; Lorente, C; Brula, P; Hours, M

    2004-01-01

    Although municipal solid waste incineration (MSWI) has contributed to increase the overall environmental load of particulate matter containing dioxins and metals, evidence of health consequences to populations is sparse. To assess at a regional level (in southeast France) the impact of these emissions on birth defect rates. Communities with fewer than 50 000 inhabitants surrounding the 70 incinerators that operated at least one year from 1988 to 1997 were studied. Each exposed community (n = 194) was assigned an exposure index estimated from a Gaussian plume model. Poisson models and a reference population of the 2678 unexposed communities in the region were used to calculate relative risks for congenital malformations, adjusted for year of birth, maternal age, department of birth, population density, average family income, and when available, local road traffic. The rate of congenital anomalies was not significantly higher in exposed compared with unexposed communities. Some subgroups of major anomalies, specifically facial clefts and renal dysplasia, were more frequent in the exposed communities. Among exposed communities, a dose-response trend of risk with increasing exposure was observed for obstructive uropathies. Risks of cardiac anomalies, obstructive uropathies, and skin anomalies increased linearly with road traffic density. Although both incinerator emissions and road traffic may plausibly explain some of the excess risks observed, several alternative explanations, including exposure misclassification, ascertainment bias, and residual confounding cannot be excluded. Some of the effects observed, if real, might be attributable to old-technology MSWIs and the persistent pollution they have generated.

  17. A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

    Science.gov (United States)

    Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

    2016-01-01

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

  18. Slowing down Presentation of Facial Movements and Vocal Sounds Enhances Facial Expression Recognition and Induces Facial-Vocal Imitation in Children with Autism

    Science.gov (United States)

    Tardif, Carole; Laine, France; Rodriguez, Melissa; Gepner, Bruno

    2007-01-01

    This study examined the effects of slowing down presentation of facial expressions and their corresponding vocal sounds on facial expression recognition and facial and/or vocal imitation in children with autism. Twelve autistic children and twenty-four normal control children were presented with emotional and non-emotional facial expressions on…

  19. Facial anatomy.

    Science.gov (United States)

    Marur, Tania; Tuna, Yakup; Demirci, Selman

    2014-01-01

    Dermatologic problems of the face affect both function and aesthetics, which are based on complex anatomical features. Treating dermatologic problems while preserving the aesthetics and functions of the face requires knowledge of normal anatomy. When performing successfully invasive procedures of the face, it is essential to understand its underlying topographic anatomy. This chapter presents the anatomy of the facial musculature and neurovascular structures in a systematic way with some clinically important aspects. We describe the attachments of the mimetic and masticatory muscles and emphasize their functions and nerve supply. We highlight clinically relevant facial topographic anatomy by explaining the course and location of the sensory and motor nerves of the face and facial vasculature with their relations. Additionally, this chapter reviews the recent nomenclature of the branching pattern of the facial artery. © 2013 Elsevier Inc. All rights reserved.

  20. Local Equilibrium and Retardation Revisited.

    Science.gov (United States)

    Hansen, Scott K; Vesselinov, Velimir V

    2018-01-01

    In modeling solute transport with mobile-immobile mass transfer (MIMT), it is common to use an advection-dispersion equation (ADE) with a retardation factor, or retarded ADE. This is commonly referred to as making the local equilibrium assumption (LEA). Assuming local equilibrium, Eulerian textbook treatments derive the retarded ADE, ostensibly exactly. However, other authors have presented rigorous mathematical derivations of the dispersive effect of MIMT, applicable even in the case of arbitrarily fast mass transfer. We resolve the apparent contradiction between these seemingly exact derivations by adopting a Lagrangian point of view. We show that local equilibrium constrains the expected time immobile, whereas the retarded ADE actually embeds a stronger, nonphysical, constraint: that all particles spend the same amount of every time increment immobile. Eulerian derivations of the retarded ADE thus silently commit the gambler's fallacy, leading them to ignore dispersion due to mass transfer that is correctly modeled by other approaches. We then present a particle tracking simulation illustrating how poor an approximation the retarded ADE may be, even when mobile and immobile plumes are continually near local equilibrium. We note that classic "LEA" (actually, retarded ADE validity) criteria test for insignificance of MIMT-driven dispersion relative to hydrodynamic dispersion, rather than for local equilibrium. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

  1. Diplegia facial traumatica Traumatic facial diplegia: a case report

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1975-12-01

    Full Text Available É relatado um caso de paralisia facial bilateral, incompleta, associada a hipoacusia esquerda, após traumatismo cranioencefálico, com fraturas evidenciadas radiológicamente. Algumas considerações são formuladas tentando relacionar ditas manifestações com fraturas do osso temporal.A case of traumatic facial diplegia with left partial loss of hearing following head injury is reported. X-rays showed fractures on the occipital and left temporal bones. A review of traumatic facial paralysis is made.

  2. Correlations between anomalies of jugular veins and areas of vascular drainage of head and neck.

    Science.gov (United States)

    Vaida, Monica-Adriana; Niculescu, V; Motoc, A; Bolintineanu, S; Sargan, Izabella; Niculescu, M C

    2006-01-01

    The study conducted on 60 human cadavers preserved in formalin, in the Anatomy Laboratory of the "Victor Babes" University of Medicine and Pharmacy Timisoara, during 2000-2006, observed the internal and external jugular veins from the point of view of their origin, course and affluents. The morphological variability of the jugular veins (external jugular that receives as affluents the facial and lingual veins and drains into the internal jugular, draining the latter's territory--3.33%; internal jugular that receives the lingual, upper thyroid and facial veins, independent--13.33%, via the linguofacial trunk--50%, and via thyrolinguofacial trunk--33.33%) made possible the correlation of these anomalies with disorders in the ontogenetic development of the veins of the neck. Knowing the variants of origin, course and drainage area of jugular veins is important not only for the anatomist but also for the surgeon operating at this level.

  3. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

    NARCIS (Netherlands)

    Thomeer, H.G.; Kunst, H.P.; Verbist, B.M.; Cremers, C.W.R.J.

    2012-01-01

    OBJECTIVES: To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. STUDY DESIGN: Retrospective chart study.

  4. Franceschetti syndrome (mandibulo-facial dysostosis at a newborn

    Directory of Open Access Journals (Sweden)

    Nechaev V.N.

    2015-12-01

    Full Text Available The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis resulting from defeat of the structures proceeding from the first branchial arch. The pathological state is inherited on autosomno-dominanttype. The disease can be observed in two or even three generations. The supervision represents a great interest from the clinical point of view as it rarely occurs in daily practice. Early diagnostics of difficult genetic syndromes and the clinical supervision described represent significant difficulties. According to the research, in similar situations statement of the syndromal diagnosis with specification of anomalies of development on the basis of the analysis of clinical data, additional methods of inspection, with the subsequent surgical correction of the broken functions has been justified.

  5. [Peripheral facial nerve lesion induced long-term dendritic retraction in pyramidal cortico-facial neurons].

    Science.gov (United States)

    Urrego, Diana; Múnera, Alejandro; Troncoso, Julieta

    2011-01-01

    Little evidence is available concerning the morphological modifications of motor cortex neurons associated with peripheral nerve injuries, and the consequences of those injuries on post lesion functional recovery. Dendritic branching of cortico-facial neurons was characterized with respect to the effects of irreversible facial nerve injury. Twenty-four adult male rats were distributed into four groups: sham (no lesion surgery), and dendritic assessment at 1, 3 and 5 weeks post surgery. Eighteen lesion animals underwent surgical transection of the mandibular and buccal branches of the facial nerve. Dendritic branching was examined by contralateral primary motor cortex slices stained with the Golgi-Cox technique. Layer V pyramidal (cortico-facial) neurons from sham and injured animals were reconstructed and their dendritic branching was compared using Sholl analysis. Animals with facial nerve lesions displayed persistent vibrissal paralysis throughout the five week observation period. Compared with control animal neurons, cortico-facial pyramidal neurons of surgically injured animals displayed shrinkage of their dendritic branches at statistically significant levels. This shrinkage persisted for at least five weeks after facial nerve injury. Irreversible facial motoneuron axonal damage induced persistent dendritic arborization shrinkage in contralateral cortico-facial neurons. This morphological reorganization may be the physiological basis of functional sequelae observed in peripheral facial palsy patients.

  6. Facial Pain Followed by Unilateral Facial Nerve Palsy: A Case Report with Literature Review

    OpenAIRE

    GV, Sowmya; BS, Manjunatha; Goel, Saurabh; Singh, Mohit Pal; Astekar, Madhusudan

    2014-01-01

    Peripheral facial nerve palsy is the commonest cranial nerve motor neuropathy. The causes range from cerebrovascular accident to iatrogenic damage, but there are few reports of facial nerve paralysis attributable to odontogenic infections. In majority of the cases, recovery of facial muscle function begins within first three weeks after onset. This article reports a unique case of 32-year-old male patient who developed facial pain followed by unilateral facial nerve paralysis due to odontogen...

  7. Facial infiltrative lipomatosis

    International Nuclear Information System (INIS)

    Haloi, A.K.; Ditchfield, M.; Pennington, A.; Philips, R.

    2006-01-01

    Although there are multiple case reports and small series concerning facial infiltrative lipomatosis, there is no composite radiological description of the condition. Radiological evaluation of facial infiltrative lipomatosis using plain film, sonography, CT and MRI. We radiologically evaluated four patients with facial infiltrative lipomatosis. Initial plain radiographs of the face were acquired in all patients. Three children had an initial sonographic examination to evaluate the condition, followed by MRI. One child had a CT and then MRI. One child had abnormalities on plain radiographs. Sonographically, the lesions were seen as ill-defined heterogeneously hypoechoic areas with indistinct margins. On CT images, the lesions did not have a homogeneous fat density but showed some relatively more dense areas in deeper parts of the lesions. MRI provided better delineation of the exact extent of the process and characterization of facial infiltrative lipomatosis. Facial infiltrative lipomatosis should be considered as a differential diagnosis of vascular or lymphatic malformation when a child presents with unilateral facial swelling. MRI is the most useful single imaging modality to evaluate the condition, as it provides the best delineation of the exact extent of the process. (orig.)

  8. Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.

    Science.gov (United States)

    Melis, Daniela; Genesio, Rita; Del Giudice, Ennio; Taurisano, Roberta; Mormile, Angela; D'Elia, Federica; Conti, Anna; Imperati, Floriana; Andria, Generoso; Nitsch, Lucio

    2012-01-01

    Small supernumerary marker chromosomes (sSMC) occur with a frequency of approximately 0.4 per 1000 newborns and are more frequent in the population with mental retardation and/or with dysmorphic signs. Small supernumerary chromosome rings (sSCR) usually occur as apart of a mosaic karyotype (Liehr et al., 2004). Chromosome 19 supernumerary rings are very rare. Almost all cases of sSMC19 have been reported on Thomas Liehr's website (http://www.med.uni-jena.de/fish/sSMC/19.htm#Start19). Of these cases, 14 were with phenotypic abnormalities and a clear characterization of the sSMC; two cases were suitable for comparison with our case with regard to their genetic content, but not with regard to the structure ofthe sSMC (Manvelyan et al., 2008). The phenotype, associated with partial trisomy 19q, includes facial dysmorphism, growth and mental retardation, macrocephaly, heart malformation and anomalies of the genitourinary and gastrointestinal tracts. The phenotype associated with partial trisomy 19p is characterized by dysmorphic features, severe mental retardation, abnormalities of brain morphology and anomalies of the fingers (Tercanli et al., 2000; Qorri et al., 2002; Novelli et al., 2005; Vraneković et al., 2008). Herein, we report the phenotype and molecular cytogenetic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19.

  9. Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

    Science.gov (United States)

    Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

    2009-07-01

    Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

  10. Development of the Korean Facial Emotion Stimuli: Korea University Facial Expression Collection 2nd Edition

    Directory of Open Access Journals (Sweden)

    Sun-Min Kim

    2017-05-01

    Full Text Available Background: Developing valid emotional facial stimuli for specific ethnicities creates ample opportunities to investigate both the nature of emotional facial information processing in general and clinical populations as well as the underlying mechanisms of facial emotion processing within and across cultures. Given that most entries in emotional facial stimuli databases were developed with western samples, and given that very few of the eastern emotional facial stimuli sets were based strictly on the Ekman’s Facial Action Coding System, developing valid emotional facial stimuli of eastern samples remains a high priority.Aims: To develop and examine the psychometric properties of six basic emotional facial stimuli recruiting professional Korean actors and actresses based on the Ekman’s Facial Action Coding System for the Korea University Facial Expression Collection-Second Edition (KUFEC-II.Materials And Methods: Stimulus selection was done in two phases. First, researchers evaluated the clarity and intensity of each stimulus developed based on the Facial Action Coding System. Second, researchers selected a total of 399 stimuli from a total of 57 actors and actresses, which were then rated on accuracy, intensity, valence, and arousal by 75 independent raters.Conclusion: The hit rates between the targeted and rated expressions of the KUFEC-II were all above 80%, except for fear (50% and disgust (63%. The KUFEC-II appears to be a valid emotional facial stimuli database, providing the largest set of emotional facial stimuli. The mean intensity score was 5.63 (out of 7, suggesting that the stimuli delivered the targeted emotions with great intensity. All positive expressions were rated as having a high positive valence, whereas all negative expressions were rated as having a high negative valence. The KUFEC II is expected to be widely used in various psychological studies on emotional facial expression. KUFEC-II stimuli can be obtained through

  11. POLYAMIDE 6 WITH A FLAME RETARDANT ENCAPSULATED BY POLYAMIDE 66: FLAME RETARDATION, THERMO-DECOMPOSITION AND THE POTENTIAL MECHANISM

    Institute of Scientific and Technical Information of China (English)

    Wei-cheng Xiong; Li Chen; Bin Zhao; De-yi Wang; Yu-zhong Wang

    2012-01-01

    A novel encapsulated flame retardant containing phosphorus-nitrogen (MSMM-Al-P) was prepared by encapsulating with polyamide 66 (PA66-MSMM-Al-P) for the flame retardation of polyamide 6 (PA6).The structure and thermal properties of PA66-MSMM-Al-P were characterized by Fourier-transform infrared spectroscopy,X-ray photoelectron spectroscopy and thermogravimetric analysis.The flammability of PA6 containing' flame retardants (MSMMAl-P and PA66-MSMM-Al-P) was investigated by the limiting oxygen index test,vertical burning test and cone calorimeter.The flame retardancy and cone calorimetric analyses suggested a synergistic effect between PA66 and MSMM-Al-P in the flame-retardant PA6.Thermal stability of the flame-retardant PA6 was also investigated.

  12. Caricaturing facial expressions.

    Science.gov (United States)

    Calder, A J; Rowland, D; Young, A W; Nimmo-Smith, I; Keane, J; Perrett, D I

    2000-08-14

    The physical differences between facial expressions (e.g. fear) and a reference norm (e.g. a neutral expression) were altered to produce photographic-quality caricatures. In Experiment 1, participants rated caricatures of fear, happiness and sadness for their intensity of these three emotions; a second group of participants rated how 'face-like' the caricatures appeared. With increasing levels of exaggeration the caricatures were rated as more emotionally intense, but less 'face-like'. Experiment 2 demonstrated a similar relationship between emotional intensity and level of caricature for six different facial expressions. Experiments 3 and 4 compared intensity ratings of facial expression caricatures prepared relative to a selection of reference norms - a neutral expression, an average expression, or a different facial expression (e.g. anger caricatured relative to fear). Each norm produced a linear relationship between caricature and rated intensity of emotion; this finding is inconsistent with two-dimensional models of the perceptual representation of facial expression. An exemplar-based multidimensional model is proposed as an alternative account.

  13. Parotidectomía y vena facial Parotidectomy and facial vein

    Directory of Open Access Journals (Sweden)

    F. Hernández Altemir

    2009-10-01

    Full Text Available La cirugía de los tumores benignos de la parótida, es una cirugía de relaciones con estructuras fundamentalmente nerviosas cuyo daño, representa un gravísimo problema psicosomático por definirlo de una manera genérica. Para ayudar al manejo quirúrgico del nervio facial periférico, es por lo que en el presente artículo tratamos de enfatizar la importancia de la vena facial en la disección y conservación del nervio, precisamente donde su disección suele ser más comprometida, esto es en las ramas más caudales. El trabajo que vamos a desarrollar hay que verlo pues, como un ensalzamiento de las estructuras venosas en el seguimiento y control del nervio facial periférico y de porqué no, el nervio auricular mayor no siempre suficientemente valorado en la cirugía de la parótida al perder protagonismo con el facial.Benign parotid tumor surgery is related to fundamental nervous structures, defined simply: that when damaged cause great psychosomatic problems. In order to make peripheral facial nerve surgery easy to handle for the surgeon this article emphasizes the importance of the facial vein in the dissection and conservation of the nerve. Its dissection can be compromised if the caudal branches are damaged. The study that we develop should be seen as praise for the vein structures in the follow up and control of the peripheral facial nerve, and the main auricular nerve that is often undervalued when it is no longer the protagonist in the face.

  14. Enhancing facial features by using clear facial features

    Science.gov (United States)

    Rofoo, Fanar Fareed Hanna

    2017-09-01

    The similarity of features between individuals of same ethnicity motivated the idea of this project. The idea of this project is to extract features of clear facial image and impose them on blurred facial image of same ethnic origin as an approach to enhance a blurred facial image. A database of clear images containing 30 individuals equally divided to five different ethnicities which were Arab, African, Chines, European and Indian. Software was built to perform pre-processing on images in order to align the features of clear and blurred images. And the idea was to extract features of clear facial image or template built from clear facial images using wavelet transformation to impose them on blurred image by using reverse wavelet. The results of this approach did not come well as all the features did not align together as in most cases the eyes were aligned but the nose or mouth were not aligned. Then we decided in the next approach to deal with features separately but in the result in some cases a blocky effect was present on features due to not having close matching features. In general the available small database did not help to achieve the goal results, because of the number of available individuals. The color information and features similarity could be more investigated to achieve better results by having larger database as well as improving the process of enhancement by the availability of closer matches in each ethnicity.

  15. Facial reanimation by muscle-nerve neurotization after facial nerve sacrifice. Case report.

    Science.gov (United States)

    Taupin, A; Labbé, D; Babin, E; Fromager, G

    2016-12-01

    Recovering a certain degree of mimicry after sacrifice of the facial nerve is a clinically recognized finding. The authors report a case of hemifacial reanimation suggesting a phenomenon of neurotization from muscle-to-nerve. A woman benefited from a parotidectomy with sacrifice of the left facial nerve indicated for recurrent tumor in the gland. The distal branches of the facial nerve, isolated at the time of resection, were buried in the masseter muscle underneath. The patient recovered a voluntary hémifacial motricity. The electromyographic analysis of the motor activity of the zygomaticus major before and after block of the masseter nerve showed a dependence between mimic muscles and the masseter muscle. Several hypotheses have been advanced to explain the spontaneous reanimation of facial paralysis. The clinical case makes it possible to argue in favor of muscle-to-nerve neurotization from masseter muscle to distal branches of the facial nerve. It illustrates the quality of motricity that can be obtained thanks to this procedure. The authors describe a simple implantation technique of distal branches of the facial nerve in the masseter muscle during a radical parotidectomy with facial nerve sacrifice and recovery of resting tone but also a quality voluntary mimicry. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  16. Representing affective facial expressions for robots and embodied conversational agents by facial landmarks

    NARCIS (Netherlands)

    Liu, C.; Ham, J.R.C.; Postma, E.O.; Midden, C.J.H.; Joosten, B.; Goudbeek, M.

    2013-01-01

    Affective robots and embodied conversational agents require convincing facial expressions to make them socially acceptable. To be able to virtually generate facial expressions, we need to investigate the relationship between technology and human perception of affective and social signals. Facial

  17. Mental Retardation; Its Social Context and Social Consequences.

    Science.gov (United States)

    Farber, Bernard

    Concerned with mental retardation as a social product, the following topics are discussed: mental retardation as a social phenomenon, the concept of the retarded as surplus population, labeling and incompetence in relation to life chances, mental retardation as deviance and as incompetence, and findings on the prevalence of retardation in the…

  18. AUTISTIC FEATURES IN CHILDREN WITH MENTAL RETARDATION

    Science.gov (United States)

    Kar, Nilamadhab; Khanna, Rakesh; Kar, Gopal Chandra

    1997-01-01

    Most of the autistic disorder patients are also mentally retarded and many mentally retarded persons exhibit autistic symptoms. By using a standard instrument (Ritvo-Freeman Real Life Rating Scale) the autistic features of the mentally retarded children were studied. The study also examined the influence of age, sex and level of mental retardation on the occurrence of autistic symptoms. Children who came for consultation to child psychiatric unit were compared with those at a school for children with mental retardation receiving stimulation. Male children from child psychiatric unit had significantly higher scores than those from the school. Social and language impairment could be reliably identified and grouped. It was possible to diagnose the syndrome of autism in children with mental retardation in a significant number (9.6%)as compared to that was possible only clinically (1.9%). More number of children with severe/ profound mental retardation could be diagnosed as autistic. The autistic syndrome in children with mental retardation can be picked up more effectively by the use of structured instrument. PMID:21584097

  19. A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

    Science.gov (United States)

    Seidel, Jörg; Heller, Anita; Senger, Gabriele; Starke, Heike; Chudoba, Ilse; Kelbova, Christina; Tönnies, Holger; Neitzel, Heidemarie; Haase, Claudia; Beensen, Volkmar; Zintl, Felix; Claussen, Uwe; Liehr, Thomas

    2003-09-01

    We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

  20. Recurrent unilateral facial nerve palsy in a child with dehiscent facial nerve canal

    Directory of Open Access Journals (Sweden)

    Christopher Liu

    2016-12-01

    Full Text Available Objective: The dehiscent facial nerve canal has been well documented in histopathological studies of temporal bones as well as in clinical setting. We describe clinical and radiologic features of a child with recurrent facial nerve palsy and dehiscent facial nerve canal. Methods: Retrospective chart review. Results: A 5-year-old male was referred to the otolaryngology clinic for evaluation of recurrent acute otitis media and hearing loss. He also developed recurrent left peripheral FN palsy associated with episodes of bilateral acute otitis media. High resolution computed tomography of the temporal bones revealed incomplete bony coverage of the tympanic segment of the left facial nerve. Conclusions: Recurrent peripheral FN palsy may occur in children with recurrent acute otitis media in the presence of a dehiscent facial nerve canal. Facial nerve canal dehiscence should be considered in the differential diagnosis of children with recurrent peripheral FN palsy.

  1. Pediatric facial injuries: It's management

    OpenAIRE

    Singh, Geeta; Mohammad, Shadab; Pal, U. S.; Hariram,; Malkunje, Laxman R.; Singh, Nimisha

    2011-01-01

    Background: Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. Purpose: To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Materials and Methods: Sixty child patients with facial trauma were selected rando...

  2. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

    Science.gov (United States)

    Bartholdi, Deborah; Toelle, Sandra P; Steiner, Bernhard; Boltshauser, Eugen; Schinzel, Albert; Riegel, Mariluce

    2008-01-01

    Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;10 translocation with terminal duplication of 10q [dup(10)(q25.1-->qter)] and monosomy of a small terminal segment of chromosome 4q [del(4)(34.3-->qter)]. Detailed clinical examination and review of the literature showed that the phenotype of the patient was mainly determined by the dup(10q). This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. Some of these rearrangements-like the terminal dup(10q) identified in our patient or interstitial del(2q)-are associated with clearly defined phenotypes and can be well distinguished from each other on basis of clinical examination. This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome.

  3. Facial Sports Injuries

    Science.gov (United States)

    ... the patient has HIV or hepatitis. Facial Fractures Sports injuries can cause potentially serious broken bones or fractures of the face. Common symptoms of facial fractures include: swelling and bruising, ...

  4. The measurement of retardation in depression.

    Science.gov (United States)

    Dantchev, N; Widlöcher, D J

    1998-01-01

    The description of clinical features helps to distinguish between depressive illness and nondepressive psychic pain and enables the clinician to decide whether prescription of an antidepressant is beneficial. Psychomotor retardation is probably a central feature of depression, and this review discusses the methods available for measuring it. The Salpêtrière Retardation Rating Scale (SRRS) specifically measures psychomotor retardation; the scale and applications are described. Means of measuring motor and speech activity and an experimental approach for understanding the process underlying psychomotor retardation are reviewed. Comparison of the SRRS and other rating scale scores demonstrates that retardation is related to depression severity and therapeutic change and is a good criterion for prediction of therapeutic effect. The SRRS has been used to show that selective antidepressants target specific clinical dimensions of depression depending on the patient subgroup treated. Measures of motor and speech activity are sensitive to therapeutic response. Choice Reaction Time and Simple Reaction Time tasks are particularly suited for examining psychomotor retardation because they test the decision process while avoiding motivation and attention interference. Psychomotor retardation is a constant and probably central feature of depression. Means available for measuring it can be used to assess the effects of antidepressants on specific clinical dimensions.

  5. Outcome of a graduated minimally invasive facial reanimation in patients with facial paralysis.

    Science.gov (United States)

    Holtmann, Laura C; Eckstein, Anja; Stähr, Kerstin; Xing, Minzhi; Lang, Stephan; Mattheis, Stefan

    2017-08-01

    Peripheral paralysis of the facial nerve is the most frequent of all cranial nerve disorders. Despite advances in facial surgery, the functional and aesthetic reconstruction of a paralyzed face remains a challenge. Graduated minimally invasive facial reanimation is based on a modular principle. According to the patients' needs, precondition, and expectations, the following modules can be performed: temporalis muscle transposition and facelift, nasal valve suspension, endoscopic brow lift, and eyelid reconstruction. Applying a concept of a graduated minimally invasive facial reanimation may help minimize surgical trauma and reduce morbidity. Twenty patients underwent a graduated minimally invasive facial reanimation. A retrospective chart review was performed with a follow-up examination between 1 and 8 months after surgery. The FACEgram software was used to calculate pre- and postoperative eyelid closure, the level of brows, nasal, and philtral symmetry as well as oral commissure position at rest and oral commissure excursion with smile. As a patient-oriented outcome parameter, the Glasgow Benefit Inventory questionnaire was applied. There was a statistically significant improvement in the postoperative score of eyelid closure, brow asymmetry, nasal asymmetry, philtral asymmetry as well as oral commissure symmetry at rest (p facial nerve repair or microneurovascular tissue transfer cannot be applied, graduated minimally invasive facial reanimation is a promising option to restore facial function and symmetry at rest.

  6. Synergistic Effect of Nanosilica Aerogel with Phosphorus Flame Retardants on Improving Flame Retardancy and Leaching Resistance of Wood

    Directory of Open Access Journals (Sweden)

    Xiaodan Zhu

    2014-01-01

    Full Text Available Nanosilica (Nano-SiO2 sol fabricated by a sol-gel process was introduced into wood modification with phosphorus flame retardants to improve the flame retardancy and leaching resistance of wood. The obtained materials were characterized by scanning electron microscopy and energy dispersive spectrometer (SEM-EDS, thermogravimetric analysis (TGA, cone calorimetric (CONE, and infrared spectroscopy (FT-IR. The residual rate of flame retardants before and after leaching was determinated by a leaching resistance. The results showed that the phosphorus flame retardants and SiO2 sol could reside in the poplar wood and are widely distributed in the vessels, pits, wood timber, and the spaces between wood cells of poplar substrate. TGA and CONE results indicated that the introduction of nano-SiO2 aerogel with phosphorus flame retardants had a significantly synergistic effect on improving the flame retardancy and inhibiting the release of smoke and toxic gases. In addition, the leaching resistance test, combined with infrared analysis and EDS analysis, confirmed that the phosphorus flame retardants were able to be fixed by SiO2 aerogel in the wood.

  7. Gravitational anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Leutwyler, H; Mallik, S

    1986-12-01

    The effective action for fermions moving in external gravitational and gauge fields is analyzed in terms of the corresponding external field propagator. The central object in our approach is the covariant energy-momentum tensor which is extracted from the regular part of the propagator at short distances. It is shown that the Lorentz anomaly, the conformal anomaly and the gauge anomaly can be expressed in terms of the local polynomials which determine the singular part of the propagator. (There are no coordinate anomalies). Except for the conformal anomaly, for which we give explicit representations only in dless than or equal to4, we consider an arbitrary number of dimensions.

  8. Does Facial Amimia Impact the Recognition of Facial Emotions? An EMG Study in Parkinson’s Disease

    Science.gov (United States)

    Argaud, Soizic; Delplanque, Sylvain; Houvenaghel, Jean-François; Auffret, Manon; Duprez, Joan; Vérin, Marc; Grandjean, Didier; Sauleau, Paul

    2016-01-01

    According to embodied simulation theory, understanding other people’s emotions is fostered by facial mimicry. However, studies assessing the effect of facial mimicry on the recognition of emotion are still controversial. In Parkinson’s disease (PD), one of the most distinctive clinical features is facial amimia, a reduction in facial expressiveness, but patients also show emotional disturbances. The present study used the pathological model of PD to examine the role of facial mimicry on emotion recognition by investigating EMG responses in PD patients during a facial emotion recognition task (anger, joy, neutral). Our results evidenced a significant decrease in facial mimicry for joy in PD, essentially linked to the absence of reaction of the zygomaticus major and the orbicularis oculi muscles in response to happy avatars, whereas facial mimicry for expressions of anger was relatively preserved. We also confirmed that PD patients were less accurate in recognizing positive and neutral facial expressions and highlighted a beneficial effect of facial mimicry on the recognition of emotion. We thus provide additional arguments for embodied simulation theory suggesting that facial mimicry is a potential lever for therapeutic actions in PD even if it seems not to be necessarily required in recognizing emotion as such. PMID:27467393

  9. Incongruence Between Observers’ and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli

    Directory of Open Access Journals (Sweden)

    Tanja S. H. Wingenbach

    2018-06-01

    Full Text Available According to embodied cognition accounts, viewing others’ facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others’ facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a explicit imitation of viewed facial emotional expressions (stimulus-congruent condition, (b pen-holding with the lips (stimulus-incongruent condition, and (c passive viewing (control condition. It was hypothesised that (1 experimental condition (a and (b result in greater facial muscle activity than (c, (2 experimental condition (a increases emotion recognition accuracy from others’ faces compared to (c, (3 experimental condition (b lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c. Participants (42 males, 42 females underwent a facial emotion recognition experiment (ADFES-BIV while electromyography (EMG was recorded from five facial muscle sites. The experimental conditions’ order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed.

  10. Incongruence Between Observers' and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli.

    Science.gov (United States)

    Wingenbach, Tanja S H; Brosnan, Mark; Pfaltz, Monique C; Plichta, Michael M; Ashwin, Chris

    2018-01-01

    According to embodied cognition accounts, viewing others' facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others' facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others' faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions' order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed.

  11. Incongruence Between Observers’ and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli

    Science.gov (United States)

    Wingenbach, Tanja S. H.; Brosnan, Mark; Pfaltz, Monique C.; Plichta, Michael M.; Ashwin, Chris

    2018-01-01

    According to embodied cognition accounts, viewing others’ facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others’ facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others’ faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions’ order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed. PMID:29928240

  12. Can earthworms survive fire retardants?

    Science.gov (United States)

    Beyer, W.N.; Olson, A.

    1996-01-01

    Most common fire retardants are foams or are similar to common agricultural fertilizers, such as ammonium sulfate and ammonium phosphate. Although fire retardants are widely applied to soils, we lack basic information about their toxicities to soil organisms. We measured the toxicity of five fire retardants (Firetrol LCG-R, Firetrol GTS-R, Silv-Ex Foam Concentrate, Phos-chek D-75, and Phos-chek WD-881) to earthworms using the pesticide toxicity test developed for earthworms by the European Economic Community. None was lethal at 1,000 ppm in the soil, which was suggested as a relatively high exposure under normal applications. We concluded that the fire retardants tested are relatively nontoxic to soil organisms compared with other environmental chemicals and that they probably do not reduce earthworm populations when applied under usual firefighting conditions.

  13. Facial orientation and facial shape in extant great apes: a geometric morphometric analysis of covariation.

    Science.gov (United States)

    Neaux, Dimitri; Guy, Franck; Gilissen, Emmanuel; Coudyzer, Walter; Vignaud, Patrick; Ducrocq, Stéphane

    2013-01-01

    The organization of the bony face is complex, its morphology being influenced in part by the rest of the cranium. Characterizing the facial morphological variation and craniofacial covariation patterns in extant hominids is fundamental to the understanding of their evolutionary history. Numerous studies on hominid facial shape have proposed hypotheses concerning the relationship between the anterior facial shape, facial block orientation and basicranial flexion. In this study we test these hypotheses in a sample of adult specimens belonging to three extant hominid genera (Homo, Pan and Gorilla). Intraspecific variation and covariation patterns are analyzed using geometric morphometric methods and multivariate statistics, such as partial least squared on three-dimensional landmarks coordinates. Our results indicate significant intraspecific covariation between facial shape, facial block orientation and basicranial flexion. Hominids share similar characteristics in the relationship between anterior facial shape and facial block orientation. Modern humans exhibit a specific pattern in the covariation between anterior facial shape and basicranial flexion. This peculiar feature underscores the role of modern humans' highly-flexed basicranium in the overall integration of the cranium. Furthermore, our results are consistent with the hypothesis of a relationship between the reduction of the value of the cranial base angle and a downward rotation of the facial block in modern humans, and to a lesser extent in chimpanzees.

  14. Fire-retardant decorative inks for aircraft interiors

    Science.gov (United States)

    Kourtides, D. A.; Nir, Z.; Mikroyannidis, J. A.

    1985-01-01

    Commercial and experimental fire retardants were screened as potential fire retardants for acrylic printing inks used on aircraft interior sandwich panels. The fire retardants are selected according to their physical properties and their thermostabilities. A criterion for selecting a more stable fire retardant is established. Thermogravimetric analysis (TGA) and differential scanning calorimetry (DSC) are used to determine thermostabilities. Results show that the fire retardant formulations are more thermally stable than the acrylic ink control. It is determined that an ink formulation containing a brominated phenol and carboxy-terminated butadiene acrylonitrile which has been modified with a brominated polymeric additive (BPA), yields the highest limiting oxygen index (LOI) of all the compounds tested. All of the fire-retardant formulations have a higher oxygen index than the baseline acrylic ink.

  15. Differentiation of retarded integrals and the divergence theorem for retarded functions with discontinuities

    International Nuclear Information System (INIS)

    Cooperstock, F.I.; Lim, P.H.

    1986-01-01

    Theorems expressing the time derivatives of retarded volume and surface integrals are presented as well as the Gauss divergence theorem for retarded functions with discontinuities. These theorems greatly facilitate the analysis of gravitational radiation from the motion of disjoint matter distributions in general relativity and could find useful application in other branches of physics

  16. Hypoglossal-facial nerve "side"-to-side neurorrhaphy for facial paralysis resulting from closed temporal bone fractures.

    Science.gov (United States)

    Su, Diya; Li, Dezhi; Wang, Shiwei; Qiao, Hui; Li, Ping; Wang, Binbin; Wan, Hong; Schumacher, Michael; Liu, Song

    2018-06-06

    Closed temporal bone fractures due to cranial trauma often result in facial nerve injury, frequently inducing incomplete facial paralysis. Conventional hypoglossal-facial nerve end-to-end neurorrhaphy may not be suitable for these injuries because sacrifice of the lesioned facial nerve for neurorrhaphy destroys the remnant axons and/or potential spontaneous innervation. we modified the classical method by hypoglossal-facial nerve "side"-to-side neurorrhaphy using an interpositional predegenerated nerve graft to treat these injuries. Five patients who experienced facial paralysis resulting from closed temporal bone fractures due to cranial trauma were treated with the "side"-to-side neurorrhaphy. An additional 4 patients did not receive the neurorrhaphy and served as controls. Before treatment, all patients had suffered House-Brackmann (H-B) grade V or VI facial paralysis for a mean of 5 months. During the 12-30 months of follow-up period, no further detectable deficits were observed, but an improvement in facial nerve function was evidenced over time in the 5 neurorrhaphy-treated patients. At the end of follow-up, the improved facial function reached H-B grade II in 3, grade III in 1 and grade IV in 1 of the 5 patients, consistent with the electrophysiological examinations. In the control group, two patients showed slightly spontaneous innervation with facial function improved from H-B grade VI to V, and the other patients remained unchanged at H-B grade V or VI. We concluded that the hypoglossal-facial nerve "side"-to-side neurorrhaphy can preserve the injured facial nerve and is suitable for treating significant incomplete facial paralysis resulting from closed temporal bone fractures, providing an evident beneficial effect. Moreover, this treatment may be performed earlier after the onset of facial paralysis in order to reduce the unfavorable changes to the injured facial nerve and atrophy of its target muscles due to long-term denervation and allow axonal

  17. [Descending hypoglossal branch-facial nerve anastomosis in treating unilateral facial palsy after acoustic neuroma resection].

    Science.gov (United States)

    Liang, Jiantao; Li, Mingchu; Chen, Ge; Guo, Hongchuan; Zhang, Qiuhang; Bao, Yuhai

    2015-12-15

    To evaluate the efficiency of the descending hypoglossal branch-facial nerve anastomosis for the severe facial palsy after acoustic neuroma resection. The clinical data of 14 patients (6 males, 8 females, average age 45. 6 years old) underwent descending hypoglossal branch-facial nerve anastomosis for treatment of unilateral facial palsy was analyzed retrospectively. All patients previously had undergone resection of a large acoustic neuroma. House-Brackmann (H-B) grading system was used to evaluate the pre-, post-operative and follow up facial nerve function status. 12 cases (85.7%) had long follow up, with an average follow-up period of 24. 6 months. 6 patients had good outcome (H-B 2 - 3 grade); 5 patients had fair outcome (H-B 3 - 4 grade) and 1 patient had poor outcome (H-B 5 grade) Only 1 patient suffered hemitongue myoparalysis owing to the operation. Descending hypoglossal branch-facial nerve anastomosis is effective for facial reanimation, and it has little impact on the function of chewing, swallowing and pronunciation of the patients compared with the traditional hypoglossal-facial nerve anastomosis.

  18. Baraitser and Winter syndrome with growth hormone deficiency.

    Science.gov (United States)

    Chentli, Farida; Zellagui, Hadjer

    2014-01-01

    Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

  19. The face is not an empty canvas: how facial expressions interact with facial appearance.

    Science.gov (United States)

    Hess, Ursula; Adams, Reginald B; Kleck, Robert E

    2009-12-12

    Faces are not simply blank canvases upon which facial expressions write their emotional messages. In fact, facial appearance and facial movement are both important social signalling systems in their own right. We here provide multiple lines of evidence for the notion that the social signals derived from facial appearance on the one hand and facial movement on the other interact in a complex manner, sometimes reinforcing and sometimes contradicting one another. Faces provide information on who a person is. Sex, age, ethnicity, personality and other characteristics that can define a person and the social group the person belongs to can all be derived from the face alone. The present article argues that faces interact with the perception of emotion expressions because this information informs a decoder's expectations regarding an expresser's probable emotional reactions. Facial appearance also interacts more directly with the interpretation of facial movement because some of the features that are used to derive personality or sex information are also features that closely resemble certain emotional expressions, thereby enhancing or diluting the perceived strength of particular expressions.

  20. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    Science.gov (United States)

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  1. Holonomy anomalies

    International Nuclear Information System (INIS)

    Bagger, J.; Nemeschansky, D.; Yankielowicz, S.

    1985-05-01

    A new type of anomaly is discussed that afflicts certain non-linear sigma models with fermions. This anomaly is similar to the ordinary gauge and gravitational anomalies since it reflects a topological obstruction to the reparametrization invariance of the quantum effective action. Nonlinear sigma models are constructed based on homogeneous spaces G/H. Anomalies arising when the fermions are chiral are shown to be cancelled sometimes by Chern-Simons terms. Nonlinear sigma models are considered based on general Riemannian manifolds. 9 refs

  2. Accurate landmarking of three-dimensional facial data in the presence of facial expressions and occlusions using a three-dimensional statistical facial feature model.

    Science.gov (United States)

    Zhao, Xi; Dellandréa, Emmanuel; Chen, Liming; Kakadiaris, Ioannis A

    2011-10-01

    Three-dimensional face landmarking aims at automatically localizing facial landmarks and has a wide range of applications (e.g., face recognition, face tracking, and facial expression analysis). Existing methods assume neutral facial expressions and unoccluded faces. In this paper, we propose a general learning-based framework for reliable landmark localization on 3-D facial data under challenging conditions (i.e., facial expressions and occlusions). Our approach relies on a statistical model, called 3-D statistical facial feature model, which learns both the global variations in configurational relationships between landmarks and the local variations of texture and geometry around each landmark. Based on this model, we further propose an occlusion classifier and a fitting algorithm. Results from experiments on three publicly available 3-D face databases (FRGC, BU-3-DFE, and Bosphorus) demonstrate the effectiveness of our approach, in terms of landmarking accuracy and robustness, in the presence of expressions and occlusions.

  3. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

    Science.gov (United States)

    Kirel, B; Kural, N; Yakut, A; Adapinar, B

    2000-01-01

    We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

  4. Anomalies

    International Nuclear Information System (INIS)

    Bardeen, W.A.

    1985-08-01

    Anomalies have a diverse impact on many aspects of physical phenomena. The role of anomalies in determining physical structure from the amplitude for π 0 decay to the foundations of superstring theory will be reviewed. 36 refs

  5. The Right Brain: Surviving Retardation

    Science.gov (United States)

    Science News, 1977

    1977-01-01

    Describes two studies of brain hemisphere development which indicate children retarded in the functions of one hemisphere may not be retarded in the functions of the second hemisphere. Suggests that the left hemisphere functions may inhibit some right hemisphere functions. (SL)

  6. CT findings of mentally retarded patients

    International Nuclear Information System (INIS)

    Mikami, Akihiro; Watanabe, Hiroshi

    1984-01-01

    Cranial CT findings were compared according to the age group in 192 mentally retarded patients aged from 15 to 59 years and in 132 control subjects. Enlargement of the ventricles, cisterns or fissures was judged. The incidence of ''enlargement'' was higher, irrespective of age, in mentally retarded group than in the control group. When the mentally retarded patients were divided into the group with pathologic symptoms and the group without them, the incidence of ''enlargement'' was higher in the former group than in the control group, but there was no significant difference between the latter group and the control group. There was no consistent relationship between the degree of mental retardation and the incidence of ''enlargement''. Many of the mentally retarded patients with pathologic symptoms tended to have a wide range of enlargement, while many of the patients without them had narrowed lateral ventricle. (Namekawa, K.)

  7. Impaired Overt Facial Mimicry in Response to Dynamic Facial Expressions in High-Functioning Autism Spectrum Disorders

    Science.gov (United States)

    Yoshimura, Sayaka; Sato, Wataru; Uono, Shota; Toichi, Motomi

    2015-01-01

    Previous electromyographic studies have reported that individuals with autism spectrum disorders (ASD) exhibited atypical patterns of facial muscle activity in response to facial expression stimuli. However, whether such activity is expressed in visible facial mimicry remains unknown. To investigate this issue, we videotaped facial responses in…

  8. The MPI facial expression database--a validated database of emotional and conversational facial expressions.

    Directory of Open Access Journals (Sweden)

    Kathrin Kaulard

    Full Text Available The ability to communicate is one of the core aspects of human life. For this, we use not only verbal but also nonverbal signals of remarkable complexity. Among the latter, facial expressions belong to the most important information channels. Despite the large variety of facial expressions we use in daily life, research on facial expressions has so far mostly focused on the emotional aspect. Consequently, most databases of facial expressions available to the research community also include only emotional expressions, neglecting the largely unexplored aspect of conversational expressions. To fill this gap, we present the MPI facial expression database, which contains a large variety of natural emotional and conversational expressions. The database contains 55 different facial expressions performed by 19 German participants. Expressions were elicited with the help of a method-acting protocol, which guarantees both well-defined and natural facial expressions. The method-acting protocol was based on every-day scenarios, which are used to define the necessary context information for each expression. All facial expressions are available in three repetitions, in two intensities, as well as from three different camera angles. A detailed frame annotation is provided, from which a dynamic and a static version of the database have been created. In addition to describing the database in detail, we also present the results of an experiment with two conditions that serve to validate the context scenarios as well as the naturalness and recognizability of the video sequences. Our results provide clear evidence that conversational expressions can be recognized surprisingly well from visual information alone. The MPI facial expression database will enable researchers from different research fields (including the perceptual and cognitive sciences, but also affective computing, as well as computer vision to investigate the processing of a wider range of natural

  9. Reproductive strategy, sexual development and attraction to facial characteristics.

    Science.gov (United States)

    Cornwell, R Elisabeth; Law Smith, Miriam J; Boothroyd, Lynda G; Moore, Fhionna R; Davis, Hasker P; Stirrat, Michael; Tiddeman, Bernard; Perrett, David I

    2006-12-29

    Sexual reproduction strategies vary both between and within species in the level of investment in offspring. Life-history theories suggest that the rate of sexual maturation is critically linked to reproductive strategy, with high investment being associated with few offspring and delayed maturation. For humans, age of puberty and age of first sex are two developmental milestones that have been associated with reproductive strategies. Stress during early development can retard or accelerate sexual maturation and reproduction. Early age of menarche is associated with absence of younger siblings, absence of a father figure during early life and increased weight. Father absence during early life is also associated with early marriage, pregnancy and divorce. Choice of partner characteristics is critical to successful implementation of sexual strategies. It has been suggested that sexually dimorphic traits (including those evident in the face) signal high-quality immune function and reproductive status. Masculinity in males has also been associated with low investment in mate and offspring. Thus, women's reproductive strategy should be matched to the probability of male investment, hence to male masculinity. Our review leads us to predict associations between the rate of sexual maturation and adult preferences for facial characteristics (enhanced sexual dimorphism and attractiveness). We find for men, engaging in sex at an early age is related to an increased preference for feminized female faces. Similarly, for women, the earlier the age of first sex the greater the preference for masculinity in opposite-sex faces. When we controlled sexual dimorphism in male faces, the speed of sexual development in women was not associated with differences in preference for male facial attractiveness. These developmental influences on partner choice were not mediated by self-rated attractiveness or parental relationships. We conclude that individuals assort in preferences based on

  10. Reproductive strategy, sexual development and attraction to facial characteristics

    Science.gov (United States)

    Cornwell, R. Elisabeth; Law Smith, Miriam J; Boothroyd, Lynda G; Moore, Fhionna R; Davis, Hasker P; Stirrat, Michael; Tiddeman, Bernard; Perrett, David I

    2006-01-01

    Sexual reproduction strategies vary both between and within species in the level of investment in offspring. Life-history theories suggest that the rate of sexual maturation is critically linked to reproductive strategy, with high investment being associated with few offspring and delayed maturation. For humans, age of puberty and age of first sex are two developmental milestones that have been associated with reproductive strategies. Stress during early development can retard or accelerate sexual maturation and reproduction. Early age of menarche is associated with absence of younger siblings, absence of a father figure during early life and increased weight. Father absence during early life is also associated with early marriage, pregnancy and divorce. Choice of partner characteristics is critical to successful implementation of sexual strategies. It has been suggested that sexually dimorphic traits (including those evident in the face) signal high-quality immune function and reproductive status. Masculinity in males has also been associated with low investment in mate and offspring. Thus, women's reproductive strategy should be matched to the probability of male investment, hence to male masculinity. Our review leads us to predict associations between the rate of sexual maturation and adult preferences for facial characteristics (enhanced sexual dimorphism and attractiveness). We find for men, engaging in sex at an early age is related to an increased preference for feminized female faces. Similarly, for women, the earlier the age of first sex the greater the preference for masculinity in opposite-sex faces. When we controlled sexual dimorphism in male faces, the speed of sexual development in women was not associated with differences in preference for male facial attractiveness. These developmental influences on partner choice were not mediated by self-rated attractiveness or parental relationships. We conclude that individuals assort in preferences based on

  11. Facial EMG responses to dynamic emotional facial expressions in boys with disruptive behavior disorders

    NARCIS (Netherlands)

    Wied, de M.; Boxtel, van Anton; Zaalberg, R.; Goudena, P.P.; Matthys, W.

    2006-01-01

    Based on the assumption that facial mimicry is a key factor in emotional empathy, and clinical observations that children with disruptive behavior disorders (DBD) are weak empathizers, the present study explored whether DBD boys are less facially responsive to facial expressions of emotions than

  12. Case Report: A true median facial cleft (crano-facial dysraphia ...

    African Journals Online (AJOL)

    Case Report: A true median facial cleft (crano-facial dysraphia, atessier type O) in Bingham University Teaching Hospital, Jos. ... Patient had a multidisciplinary care by the obstetrician, Neonatologist, anesthesiologist and the plastic surgery team who scheduled a soft tissue repair of the upper lip defect, columella and ...

  13. Anomaly-free models for flavour anomalies

    Science.gov (United States)

    Ellis, John; Fairbairn, Malcolm; Tunney, Patrick

    2018-03-01

    We explore the constraints imposed by the cancellation of triangle anomalies on models in which the flavour anomalies reported by LHCb and other experiments are due to an extra U(1)^' gauge boson Z^' . We assume universal and rational U(1)^' charges for the first two generations of left-handed quarks and of right-handed up-type quarks but allow different charges for their third-generation counterparts. If the right-handed charges vanish, cancellation of the triangle anomalies requires all the quark U(1)^' charges to vanish, if there are either no exotic fermions or there is only one Standard Model singlet dark matter (DM) fermion. There are non-trivial anomaly-free models with more than one such `dark' fermion, or with a single DM fermion if right-handed up-type quarks have non-zero U(1)^' charges. In some of the latter models the U(1)^' couplings of the first- and second-generation quarks all vanish, weakening the LHC Z^' constraint, and in some other models the DM particle has purely axial couplings, weakening the direct DM scattering constraint. We also consider models in which anomalies are cancelled via extra vector-like leptons, showing how the prospective LHC Z^' constraint may be weakened because the Z^' → μ ^+ μ ^- branching ratio is suppressed relative to other decay modes.

  14. Outcome of different facial nerve reconstruction techniques

    OpenAIRE

    Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

    2016-01-01

    Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by...

  15. Effectiveness of Flame Retardants in TufFoam.

    Energy Technology Data Exchange (ETDEWEB)

    Abelow, Alexis Elizabeth [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Nissen, April [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Massey, Lee Taylor [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Whinnery, LeRoy L. [Sandia National Lab. (SNL-CA), Livermore, CA (United States)

    2017-12-01

    An investigation of polyurethane foam filled with known flame retardant fillers including hydroxides, melamine, phosphate-containing compounds, and melamine phosphates was carried out to produce a low-cost material with high flame retardant efficiency. The impact of flame retardant fillers on the physical properties such a s composite foam density, glass transition temperature, storage modulus, and thermal expansion of composite foams was investigated with the goal of synthesizing a robust rigid foam with excellent flame retardant properties.

  16. Postoperative assessment of surgical results using three dimensional surface reconstruction CT (3D-CT) in a craniofacial anomaly

    International Nuclear Information System (INIS)

    Nishimura, Jiro; Sato, Kaoru; Nishimoto, Hiroshi; Tsukiyama, Takashi; Fujioka, Mutsuhisa; Akagawa, Tetsuya.

    1988-01-01

    In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three dimensional (3D) born and soft tissue surfaces, given a high resolution CT scan-series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephaloceles, and musculoskeletal anomalies. In this study, a postoperative assessment of the craniofacial surgical results has been accomplished using this 3D-CT in 2 children with craniofacial dysmorphism. The authors discuss the advantages of this 3D-CT imaging method in the postoperative assessments of craniofacial anomalies. Results are detailed in the following listing : 1) a postoperative 3D-CT reveals the anatomical details corrected by the craniofacial surgery more precisely and stereographically than conventional radiological methods ; 2) secondary changes of the cranium after the surgery, such as bony formation in the area of the osteotomy and postoperative asymmetric deformities, are detected early by the 3D-CT imaging technique, and, 3) 3D-CT mid-sagittal and top axial views of the intracranial skull base are most useful in postoperative assessments of the surgical results. Basesd on our experience, we expect that three dimensional surface reconstructions from CT scans will become to be used widely in the postoperative assessments of the surgical results of craniofacial anomalies. (author)

  17. Microbial biofilms on silicone facial prostheses

    NARCIS (Netherlands)

    Ariani, Nina

    2015-01-01

    Facial disfigurements can result from oncologic surgery, trauma and congenital deformities. These disfigurements can be rehabilitated with facial prostheses. Facial prostheses are usually made of silicones. A problem of facial prostheses is that microorganisms can colonize their surface. It is hard

  18. [Facial tics and spasms].

    Science.gov (United States)

    Potgieser, Adriaan R E; van Dijk, J Marc C; Elting, Jan Willem J; de Koning-Tijssen, Marina A J

    2014-01-01

    Facial tics and spasms are socially incapacitating, but effective treatment is often available. The clinical picture is sufficient for distinguishing between the different diseases that cause this affliction.We describe three cases of patients with facial tics or spasms: one case of tics, which are familiar to many physicians; one case of blepharospasms; and one case of hemifacial spasms. We discuss the differential diagnosis and the treatment possibilities for facial tics and spasms. Early diagnosis and treatment is important, because of the associated social incapacitation. Botulin toxin should be considered as a treatment option for facial tics and a curative neurosurgical intervention should be considered for hemifacial spasms.

  19. Síndrome de dolor facial

    Directory of Open Access Journals (Sweden)

    DR. F. Eugenio Tenhamm

    2014-07-01

    Full Text Available El dolor o algia facial constituye un síndrome doloroso de las estructuras cráneo faciales bajo el cual se agrupan un gran número de enfermedades. La mejor manera de abordar el diagnóstico diferencial de las entidades que causan el dolor facial es usando un algoritmo que identifica cuatro síndromes dolorosos principales que son: las neuralgias faciales, los dolores faciales con síntomas y signos neurológicos, las cefaleas autonómicas trigeminales y los dolores faciales sin síntomas ni signos neurológicos. Una evaluación clínica detallada de los pacientes, permite una aproximación etiológica lo que orienta el estudio diagnóstico y permite ofrecer una terapia específica a la mayoría de los casos

  20. Outcome of different facial nerve reconstruction techniques.

    Science.gov (United States)

    Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

    There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  1. Facial Transplantation Surgery Introduction

    OpenAIRE

    Eun, Seok-Chan

    2015-01-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotranspla...

  2. Outcome of different facial nerve reconstruction techniques

    Directory of Open Access Journals (Sweden)

    Aboshanif Mohamed

    Full Text Available Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients. All patients had facial function House-Brackmann (HB grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. Results: For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Conclusion: Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique.

  3. Recognizing Facial Expressions Automatically from Video

    Science.gov (United States)

    Shan, Caifeng; Braspenning, Ralph

    Facial expressions, resulting from movements of the facial muscles, are the face changes in response to a person's internal emotional states, intentions, or social communications. There is a considerable history associated with the study on facial expressions. Darwin [22] was the first to describe in details the specific facial expressions associated with emotions in animals and humans, who argued that all mammals show emotions reliably in their faces. Since that, facial expression analysis has been a area of great research interest for behavioral scientists [27]. Psychological studies [48, 3] suggest that facial expressions, as the main mode for nonverbal communication, play a vital role in human face-to-face communication. For illustration, we show some examples of facial expressions in Fig. 1.

  4. Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

    Science.gov (United States)

    Posey, Jennifer E; Mohrbacher, Nikki; Smith, Janice L; Patel, Ankita; Potocki, Lorraine; Breman, Amy M

    2016-03-01

    Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3-4 syndactyly, microphthalmia, coloboma, cleft lip and/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3-month-old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under-recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype. © 2015 Wiley Periodicals, Inc.

  5. Rejuvenecimiento facial en "doble sigma" "Double ogee" facial rejuvenation

    Directory of Open Access Journals (Sweden)

    O. M. Ramírez

    2007-03-01

    Full Text Available Las técnicas subperiósticas descritas por Tessier revolucionaron el tratamiento del envejecimiento facial, recomendando esta vía para tratar los signos tempranos del envejecimiento en pacientes jóvenes y de mediana edad. Psillakis refinó la técnica y Ramírez describió un método más seguro y eficaz de lifting subperióstico, demostrando que la técnica subperióstica de rejuveneciento facial se puede aplicar en el amplio espectro del envejecimiento facial. La introducción del endoscopio en el tratamiento del envejecimiento facial ha abierto una nueva era en la Cirugía Estética. Hoy la disección subperióstica asistida endocópicamente del tercio superior, medio e inferior de la cara, proporciona un medio eficaz para la reposición de los tejidos blandos, con posibilidad de aumento del esqueleto óseo craneofacial, menor edema facial postoperatorio, mínima lesión de las ramas del nervio facial y mejor tratamiento de las mejillas. Este abordaje, desarrollado y refinado durante la última década, se conoce como "Ritidectomía en Doble Sigma". El Arco Veneciano en doble sigma, bien conocido en Arquitectura desde la antigüedad, se caracteriza por ser un trazo armónico de curva convexa y a continuación curva cóncava. Cuando se observa una cara joven, desde un ángulo oblicuo, presenta una distribución característica de los tejidos, previamente descrita para el tercio medio como un arco ojival arquitectónico o una curva en forma de "S". Sin embargo, en un examen más detallado de la cara joven, en la vista de tres cuartos, el perfil completo revela una "arco ojival doble" o una sigma "S" doble. Para ver este recíproco y multicurvilíneo trazo de la belleza, debemos ver la cara en posición oblicua y así poder ver ambos cantos mediales. En esta posición, la cara joven presenta una convexidad característica de la cola de la ceja que confluye en la concavidad de la pared orbitaria lateral formando así el primer arco (superior

  6. Facial transplantation for massive traumatic injuries.

    Science.gov (United States)

    Alam, Daniel S; Chi, John J

    2013-10-01

    This article describes the challenges of facial reconstruction and the role of facial transplantation in certain facial defects and injuries. This information is of value to surgeons assessing facial injuries with massive soft tissue loss or injury. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Quality of life assessment in facial palsy: validation of the Dutch Facial Clinimetric Evaluation Scale.

    Science.gov (United States)

    Kleiss, Ingrid J; Beurskens, Carien H G; Stalmeier, Peep F M; Ingels, Koen J A O; Marres, Henri A M

    2015-08-01

    This study aimed at validating an existing health-related quality of life questionnaire for patients with facial palsy for implementation in the Dutch language and culture. The Facial Clinimetric Evaluation Scale was translated into the Dutch language using a forward-backward translation method. A pilot test with the translated questionnaire was performed in 10 patients with facial palsy and 10 normal subjects. Finally, cross-cultural adaption was accomplished at our outpatient clinic for facial palsy. Analyses for internal consistency, test-retest reliability, construct validity and responsiveness were performed. Ninety-three patients completed the Dutch Facial Clinimetric Evaluation Scale, the Dutch Facial Disability Index, and the Dutch Short Form (36) Health Survey. Cronbach's α, representing internal consistency, was 0.800. Test-retest reliability was shown by an intraclass correlation coefficient of 0.737. Correlations with the House-Brackmann score, Sunnybrook score, Facial Disability Index physical function, and social/well-being function were -0.292, 0.570, 0.713, and 0.575, respectively. The SF-36 domains correlate best with the FaCE social function domain, with the strongest correlation between the both social function domains (r = 0.576). The FaCE score did statistically significantly increase in 35 patients receiving botulinum toxin type A (P = 0.042, Student t test). The domains 'facial comfort' and 'social function' improved statistically significantly as well (P = 0.022 and P = 0.046, respectively, Student t-test). The Dutch Facial Clinimetric Evaluation Scale shows good psychometric values and can be implemented in the management of Dutch-speaking patients with facial palsy in the Netherlands. Translation of the instrument into other languages may lead to widespread use, making evaluation and comparison possible among different providers.

  8. Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

    Science.gov (United States)

    Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

    2007-04-01

    Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

  9. Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series

    Directory of Open Access Journals (Sweden)

    Lourdes Quintanilla-Dieck

    2016-01-01

    Full Text Available Objectives. First branchial cleft anomalies (BCAs constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential.

  10. Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series.

    Science.gov (United States)

    Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

    2016-01-01

    Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential.

  11. People with Mental Retardation Are Dying, Legally.

    Science.gov (United States)

    Keyes, Denis; And Others

    1997-01-01

    Criticizes the institution of the death penalty for convicted criminals with mental retardation. Examples are given of cases in which juries were not told of the defendant's mental retardation before sentencing, and a list of defendants with mental retardation that have been executed since 1976 is provided. (CR)

  12. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma.

    Science.gov (United States)

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M; Ginsberg, Lawrence E; Gidley, Paul W

    2014-08-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy.

  13. Evaluation of DNA bending models in their capacity to predict electrophoretic migration anomalies of satellite DNA sequences.

    Science.gov (United States)

    Matyášek, Roman; Fulneček, Jaroslav; Kovařík, Aleš

    2013-09-01

    DNA containing a sequence that generates a local curvature exhibits a pronounced retardation in electrophoretic mobility. Various theoretical models have been proposed to explain relationship between DNA structural features and migration anomaly. Here, we studied the capacity of 15 static wedge-bending models to predict electrophoretic behavior of 69 satellite monomers derived from four divergent families. All monomers exhibited retarded mobility in PAGE corresponding to retardation factors ranging 1.02-1.54. The curvature varied both within and across the groups and correlated with the number, position, and lengths of A-tracts. Two dinucleotide models provided strong correlation between gel mobility and curvature prediction; two trinucleotide models were satisfactory while remaining dinucleotide models provided intermediate results with reliable prediction for subsets of sequences only. In some cases, similarly shaped molecules exhibited relatively large differences in mobility and vice versa. Generally less accurate predictions were obtained in groups containing less homogeneous sequences possessing distinct structural features. In conclusion, relatively universal theoretical models were identified suitable for the analysis of natural sequences known to harbor relatively moderate curvature. These models could be potentially applied to genome wide studies. However, in silico predictions should be viewed in context of experimental measurement of intrinsic DNA curvature. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Advances in facial reanimation.

    Science.gov (United States)

    Tate, James R; Tollefson, Travis T

    2006-08-01

    Facial paralysis often has a significant emotional impact on patients. Along with the myriad of new surgical techniques in managing facial paralysis comes the challenge of selecting the most effective procedure for the patient. This review delineates common surgical techniques and reviews state-of-the-art techniques. The options for dynamic reanimation of the paralyzed face must be examined in the context of several patient factors, including age, overall health, and patient desires. The best functional results are obtained with direct facial nerve anastomosis and interpositional nerve grafts. In long-standing facial paralysis, temporalis muscle transfer gives a dependable and quick result. Microvascular free tissue transfer is a reliable technique with reanimation potential whose results continue to improve as microsurgical expertise increases. Postoperative results can be improved with ancillary soft tissue procedures, as well as botulinum toxin. The paper provides an overview of recent advances in facial reanimation, including preoperative assessment, surgical reconstruction options, and postoperative management.

  15. Computer Aided Facial Prosthetics Manufacturing System

    Directory of Open Access Journals (Sweden)

    Peng H.K.

    2016-01-01

    Full Text Available Facial deformities can impose burden to the patient. There are many solutions for facial deformities such as plastic surgery and facial prosthetics. However, current fabrication method of facial prosthetics is high-cost and time consuming. This study aimed to identify a new method to construct a customized facial prosthetic. A 3D scanner, computer software and 3D printer were used in this study. Results showed that the new developed method can be used to produce a customized facial prosthetics. The advantages of the developed method over the conventional process are low cost, reduce waste of material and pollution in order to meet the green concept.

  16. Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: a case-referent study.

    Science.gov (United States)

    Versnel, S L; Duivenvoorden, H J; Passchier, J; Mathijssen, I M J

    2010-10-01

    Patients with severe congenital facial disfigurement have a long track record of operations and hospital visits by the time they are 18 years old. The fact that their facial deformity is congenital may have an impact on how satisfied these patients are with their appearance. This study evaluated the level of satisfaction with facial appearance of congenital and of acquired facially disfigured adults, and explored demographic, physical and psychological determinants of this satisfaction. Differences compared with non-disfigured adults were examined. Fifty-nine adults with a rare facial cleft, 59 adults with a facial deformity traumatically acquired in adulthood, and a reference group of 201 non-disfigured adults completed standardised demographic, physical and psychological questionnaires. The congenital and acquired groups did not differ significantly in the level of satisfaction with facial appearance, but both were significantly less satisfied than the reference group. In facially disfigured adults, level of education, number of affected facial parts and facial function were determinants of the level of satisfaction. High fear of negative appearance evaluation by others (FNAE) and low self-esteem (SE) were strong psychological determinants. Although FNAE was higher in both patient groups, SE was similar in all three groups. Satisfaction with facial appearance of individuals with a congenital or acquired facial deformity is similar and will seldom reach the level of satisfaction of non-disfigured persons. A combination of surgical correction (with attention for facial profile and restoring facial functions) and psychological help (to increase SE and lower FNAE) may improve patient satisfaction. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. P2-28: An Amplification of Feedback from Facial Muscles Strengthened Sympathetic Activations to Emotional Facial Cues

    Directory of Open Access Journals (Sweden)

    Younbyoung Chae

    2012-10-01

    Full Text Available The facial feedback hypothesis suggests that feedback from cutaneous and muscular afferents influences our emotions during the control of facial expressions. Enhanced facial expressiveness is correlated with an increase in autonomic arousal, and self-reported emotional experience, while limited facial expression attenuates these responses. The present study was aimed at investigating the difference in emotional response in imitated versus observed facial expressions. For this, we measured the facial electromyogram of the corrugator muscle as well as the skin conductance response (SCR while participants were either imitating or simply observing emotional facial expressions. We found that participants produced significantly greater facial electromyogram activation during imitations compared to observations of angry faces. Similarly, they exhibited significantly greater SCR during imitations to angry faces compared to observations. An amplification of feedback from face muscles during imitation strengthened sympathetic activation to negative emotional cues. These findings suggest that manipulations of muscular feedback could modulate the bodily expression of emotion and perhaps also the emotional response itself.

  18. Exacerbation of Facial Motoneuron Loss after Facial Nerve Axotomy in CCR3-Deficient Mice

    Directory of Open Access Journals (Sweden)

    Derek A Wainwright

    2009-11-01

    Full Text Available We have previously demonstrated a neuroprotective mechanism of FMN (facial motoneuron survival after facial nerve axotomy that is dependent on CD4+ Th2 cell interaction with peripheral antigen-presenting cells, as well as CNS (central nervous system-resident microglia. PACAP (pituitary adenylate cyclase-activating polypeptide is expressed by injured FMN and increases Th2-associated chemokine expression in cultured murine microglia. Collectively, these results suggest a model involving CD4+ Th2 cell migration to the facial motor nucleus after injury via microglial expression of Th2-associated chemokines. However, to respond to Th2-associated chemokines, Th2 cells must express the appropriate Th2-associated chemokine receptors. In the present study, we tested the hypothesis that Th2-associated chemokine receptors increase in the facial motor nucleus after facial nerve axotomy at timepoints consistent with significant T-cell infiltration. Microarray analysis of Th2-associated chemokine receptors was followed up with real-time PCR for CCR3, which indicated that facial nerve injury increases CCR3 mRNA levels in mouse facial motor nucleus. Unexpectedly, quantitative- and co-immunofluorescence revealed increased CCR3 expression localizing to FMN in the facial motor nucleus after facial nerve axotomy. Compared with WT (wild-type, a significant decrease in FMN survival 4 weeks after axotomy was observed in CCR3–/– mice. Additionally, compared with WT, a significant decrease in FMN survival 4 weeks after axotomy was observed in Rag2 –/– (recombination activating gene-2-deficient mice adoptively transferred CD4+ T-cells isolated from CCR3–/– mice, but not in CCR3–/– mice adoptively transferred CD4+ T-cells derived from WT mice. These results provide a basis for further investigation into the co-operation between CD4+ T-cell- and CCR3-mediated neuroprotection after FMN injury.

  19. The MPI Facial Expression Database — A Validated Database of Emotional and Conversational Facial Expressions

    Science.gov (United States)

    Kaulard, Kathrin; Cunningham, Douglas W.; Bülthoff, Heinrich H.; Wallraven, Christian

    2012-01-01

    The ability to communicate is one of the core aspects of human life. For this, we use not only verbal but also nonverbal signals of remarkable complexity. Among the latter, facial expressions belong to the most important information channels. Despite the large variety of facial expressions we use in daily life, research on facial expressions has so far mostly focused on the emotional aspect. Consequently, most databases of facial expressions available to the research community also include only emotional expressions, neglecting the largely unexplored aspect of conversational expressions. To fill this gap, we present the MPI facial expression database, which contains a large variety of natural emotional and conversational expressions. The database contains 55 different facial expressions performed by 19 German participants. Expressions were elicited with the help of a method-acting protocol, which guarantees both well-defined and natural facial expressions. The method-acting protocol was based on every-day scenarios, which are used to define the necessary context information for each expression. All facial expressions are available in three repetitions, in two intensities, as well as from three different camera angles. A detailed frame annotation is provided, from which a dynamic and a static version of the database have been created. In addition to describing the database in detail, we also present the results of an experiment with two conditions that serve to validate the context scenarios as well as the naturalness and recognizability of the video sequences. Our results provide clear evidence that conversational expressions can be recognized surprisingly well from visual information alone. The MPI facial expression database will enable researchers from different research fields (including the perceptual and cognitive sciences, but also affective computing, as well as computer vision) to investigate the processing of a wider range of natural facial expressions

  20. Radiation and mental retardation

    International Nuclear Information System (INIS)

    Pochin, E.E.

    1988-01-01

    A brief article discusses mental retardation in children who had been exposed to ionizing radiation in utero. The time of greatest sensitivity is between the 8th and 15th week after conception and the time of lesser sensitivity between the 16th and 25th weeks. An examination of the thresholds for exposure indicate that severe mental retardation would not result from any present environmental exposures of the public. (U.K.)

  1. The enlargement of geniculate fossa of facial nerve canal: a new CT finding of facial nerve canal fracture

    International Nuclear Information System (INIS)

    Gong Ruozhen; Li Yuhua; Gong Wuxian; Wu Lebin

    2006-01-01

    Objective: To discuss the value of enlargement of geniculate fossa of facial nerve canal in the diagnosis of facial nerve canal fracture. Methods: Thirty patients with facial nerve canal fracture underwent axial and coronal CT scan. The correlation between the fracture and the enlargement of geniculate fossa of facial nerve canal was analyzed. The ability of showing the fracture and enlargement of geniculate fossa of facial nerve canal in axial and coronal imaging were compared. Results: Fracture of geniculate fossa of facial nerve canal was found in the operation in 30 patients, while the fracture was detected in CT in 18 patients. Enlargement of geniculate ganglion of facial nerve was detected in 30 patients in the operation, while the enlargement of fossa was found in CT in 28 cases. Enlargement and fracture of geniculate fossa of facial nerve canal were both detected in CT images in 18 patients. Only the enlargement of geniculate fossa of facial nerve canal was shown in 12 patients in CT. Conclusion: Enlargement of geniculate fossa of facial nerve canal was a useful finding in the diagnosis of fracture of geniculate fossa in patients with facial paralysis, even no fracture line was shown on CT images. (authors)

  2. CASE REPORT OF A MENTALLY RETARDED CHILD

    Directory of Open Access Journals (Sweden)

    Vasilka GALEVSKA

    2006-06-01

    Full Text Available Mental retardation is a complex individual and social problem. According to WHO, around 1-3 % of world population are mentally retarded people and the percentage between school children is around 2 %.The development of a mentally retarded child depends on factors related to the disability itself, all the limitations and characteristics which results from that. But, physical, psychical, educational and social development of a mentally retarded child, also, depend on other conditions, such as the family and the wider environment, their reactions, attitudes, awareness and sensitivity for special needs of the child, as well as their preparedness and possibilities to respond.At the same time, it is necessary that the mentally retarded child is detected and diagnosed in time, as well as the early start of an adequate treatment.

  3. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma

    OpenAIRE

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M.; Ginsberg, Lawrence E.; Gidley, Paul W.

    2014-01-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomograph...

  4. Quantitative Magnetic Resonance Imaging Volumetry of Facial Muscles in Healthy Patients with Facial Palsy

    Science.gov (United States)

    Volk, Gerd F.; Karamyan, Inna; Klingner, Carsten M.; Reichenbach, Jürgen R.

    2014-01-01

    Background: Magnetic resonance imaging (MRI) has not yet been established systematically to detect structural muscular changes after facial nerve lesion. The purpose of this pilot study was to investigate quantitative assessment of MRI muscle volume data for facial muscles. Methods: Ten healthy subjects and 5 patients with facial palsy were recruited. Using manual or semiautomatic segmentation of 3T MRI, volume measurements were performed for the frontal, procerus, risorius, corrugator supercilii, orbicularis oculi, nasalis, zygomaticus major, zygomaticus minor, levator labii superioris, orbicularis oris, depressor anguli oris, depressor labii inferioris, and mentalis, as well as for the masseter and temporalis as masticatory muscles for control. Results: All muscles except the frontal (identification in 4/10 volunteers), procerus (4/10), risorius (6/10), and zygomaticus minor (8/10) were identified in all volunteers. Sex or age effects were not seen (all P > 0.05). There was no facial asymmetry with exception of the zygomaticus major (larger on the left side; P = 0.012). The exploratory examination of 5 patients revealed considerably smaller muscle volumes on the palsy side 2 months after facial injury. One patient with chronic palsy showed substantial muscle volume decrease, which also occurred in another patient with incomplete chronic palsy restricted to the involved facial area. Facial nerve reconstruction led to mixed results of decreased but also increased muscle volumes on the palsy side compared with the healthy side. Conclusions: First systematic quantitative MRI volume measures of 5 different clinical presentations of facial paralysis are provided. PMID:25289366

  5. [Prosopagnosia and facial expression recognition].

    Science.gov (United States)

    Koyama, Shinichi

    2014-04-01

    This paper reviews clinical neuropsychological studies that have indicated that the recognition of a person's identity and the recognition of facial expressions are processed by different cortical and subcortical areas of the brain. The fusiform gyrus, especially the right fusiform gyrus, plays an important role in the recognition of identity. The superior temporal sulcus, amygdala, and medial frontal cortex play important roles in facial-expression recognition. Both facial recognition and facial-expression recognition are highly intellectual processes that involve several regions of the brain.

  6. Intrauterine radiation exposures and mental retardation

    International Nuclear Information System (INIS)

    Miller, R.W.

    1988-01-01

    Small head size and mental retardation have been known as effects of intrauterine exposure to ionizing radiation since the 1920s. In the 1950s, studies of Japanese atomic-bomb survivors revealed that at 4-17 wk of gestation, the greater the dose, the smaller the brain (and head size), and that beginning at 0.5 Gy (50 rad) in Hiroshima, mental retardation increased in frequency with increasing dose. No other excess of birth defects was observed. Otake and Schull (1984) pointed out that the period of susceptibility to mental retardation coincided with that for proliferation and migration of neuronal elements from near the cerebral ventricles to the cortex. Mental retardation could be the result of interference with this process. Their analysis indicated that exposures at 8-15 wk to 0.01-0.02 Gy (1-2 rad) doubled the frequency of severe mental retardation. This estimate was based on small numbers of mentally retarded atomic-bomb survivors. Although nuclear accidents have occurred recently, new cases will hopefully be too rare to provide further information about the risk of mental retardation. It may be possible, however, to learn about lesser impairment. New psychometric tests may be helpful in detecting subtle deficits in intelligence or neurodevelopmental function. One such test is PEERAMID, which is being used in schools to identify learning disabilities due, for example, to deficits in attention, short- or long-term memory, or in sequencing information. This and other tests could be applied in evaluating survivors of intrauterine exposure to various doses of ionizing radiation. The results could change our understanding of the safety of low-dose exposures

  7. MR findings of facial nerve on oblique sagittal MRI using TMJ surface coil: normal vs peripheral facial nerve palsy

    International Nuclear Information System (INIS)

    Park, Yong Ok; Lee, Myeong Jun; Lee, Chang Joon; Yoo, Jeong Hyun

    2000-01-01

    To evaluate the findings of normal facial nerve, as seen on oblique sagittal MRI using a TMJ (temporomandibular joint) surface coil, and then to evaluate abnormal findings of peripheral facial nerve palsy. We retrospectively reviewed the MR findings of 20 patients with peripheral facial palsy and 50 normal facial nerves of 36 patients without facial palsy. All underwent oblique sagittal MRI using a T MJ surface coil. We analyzed the course, signal intensity, thickness, location, and degree of enhancement of the facial nerve. According to the angle made by the proximal parotid segment on the axis of the mastoid segment, course was classified as anterior angulation (obtuse and acute, or buckling), straight and posterior angulation. Among 50 normal facial nerves, 24 (48%) were straight, and 23 (46%) demonstrated anterior angulation; 34 (68%) showed iso signal intensity on T1W1. In the group of patients, course on the affected side was either straight (40%) or showed anterior angulation (55%), and signal intensity in 80% of cases was isointense. These findings were similar to those in the normal group, but in patients with post-traumatic or post-operative facial palsy, buckling, of course, appeared. In 12 of 18 facial palsy cases (66.6%) in which contrast materials were administered, a normal facial nerve of the opposite facial canal showed mild enhancement on more than one segment, but on the affected side the facial nerve showed diffuse enhancement in all 14 patients with acute facial palsy. Eleven of these (79%) showed fair or marked enhancement on more than one segment, and in 12 (86%), mild enhancement of the proximal parotid segment was noted. Four of six chronic facial palsy cases (66.6%) showed atrophy of the facial nerve. When oblique sagittal MR images are obtained using a TMJ surface coil, enhancement of the proximal parotid segment of the facial nerve and fair or marked enhancement of at least one segment within the facial canal always suggests pathology of

  8. Facial neuroma masquerading as acoustic neuroma.

    Science.gov (United States)

    Sayegh, Eli T; Kaur, Gurvinder; Ivan, Michael E; Bloch, Orin; Cheung, Steven W; Parsa, Andrew T

    2014-10-01

    Facial nerve neuromas are rare benign tumors that may be initially misdiagnosed as acoustic neuromas when situated near the auditory apparatus. We describe a patient with a large cystic tumor with associated trigeminal, facial, audiovestibular, and brainstem dysfunction, which was suspicious for acoustic neuroma on preoperative neuroimaging. Intraoperative investigation revealed a facial nerve neuroma located in the cerebellopontine angle and internal acoustic canal. Gross total resection of the tumor via retrosigmoid craniotomy was curative. Transection of the facial nerve necessitated facial reanimation 4 months later via hypoglossal-facial cross-anastomosis. Clinicians should recognize the natural history, diagnostic approach, and management of this unusual and mimetic lesion. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Retardo mental Mental retardation

    Directory of Open Access Journals (Sweden)

    Marcio M. Vasconcelos

    2004-04-01

    Full Text Available OBJETIVO: Esta revisão aborda as recentes descobertas da neurobiologia do retardo mental, enfatizando os novos recursos da citogenética, das técnicas moleculares e da neurorradiologia para esclarecer o diagnóstico. FONTES DE DADOS: O autor pesquisou o banco de dados MEDLINE da National Library of Medicine utilizando as palavras-chave "mental retardation", "developmental disability", "child" e "adolescent" em diferentes combinações, abrangendo o período de janeiro de 2000 a outubro de 2003. Também foram utilizados os bancos de dados das revistas científicas Pediatrics e New England Journal of Medicine através da palavra-chave "mental retardation". No total, o autor consultou cerca de 1.500 títulos de artigos e 500 resumos, e teve acesso direto a 150 artigos completos pertinentes. Quando oportuno, algumas referências dos artigos consultados também foram consideradas. O site Online Mendelian Inheritance in Man foi utilizado como fonte de informações em genética clínica. SÍNTESE DOS DADOS: Em outubro de 2003, o total de síndromes genéticas associadas a retardo mental chegou a 1.149. Considerando-se o conjunto das causas genéticas ou ambientais e congênitas ou adquiridas de retardo mental, a avaliação diagnóstica atual é capaz de esclarecer a etiologia em 50 a 70% dos casos. CONCLUSÕES: O autor sugere uma avaliação diagnóstica do retardo mental em etapas lógicas, visando ao uso racional dos dispendiosos recursos da citogenética, biologia molecular e neuroimagem.OBJECTIVE: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging. SOURCES OF DATA: MEDLINE (January 2000 through October 2003, using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The

  10. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers...... TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence......, clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

  11. Computed tomography in facial trauma

    International Nuclear Information System (INIS)

    Zilkha, A.

    1982-01-01

    Computed tomography (CT), plain radiography, and conventional tomography were performed on 30 patients with facial trauma. CT demonstrated bone and soft-tissue involvement. In all cases, CT was superior to tomography in the assessment of facial injury. It is suggested that CT follow plain radiography in the evaluation of facial trauma

  12. Flame Retardant Polyamide Fibres: The Challenge of Minimising Flame Retardant Additive Contents with Added Nanoclays

    Directory of Open Access Journals (Sweden)

    Richard Horrocks

    2016-08-01

    Full Text Available This work shows that halogen-free, flame retarded polyamide 6 (PA6, fabrics may be produced in which component fibres still have acceptable tensile properties and low levels (preferably ≤10 wt % of additives by incorporating a nanoclay along with two types of flame retardant formulations. The latter include (i aluminium diethyl phosphinate (AlPi at 10 wt %, known to work principally in the vapour phase and (ii ammonium sulphamate (AS/dipentaerythritol (DP system present at 2.5 and 1 wt % respectively, believed to be condense phase active. The nanoclay chosen is an organically modified montmorillonite clay, Cloisite 25A. The effect of each additive system is analysed in terms of its ability to maximise both filament tensile properties relative to 100% PA6 and flame retardant behaviour of knitted fabrics in a vertical orientation. None of the AlPi-containing formulations achieved self-extinguishability, although the presence of nanoclay promoted lower burning and melt dripping rates. The AS/DP-containing formulations with total flame retardant levels of 5.5 wt % or less showed far superior properties and with nanoclay, showed fabric extinction times ≤ 39 s and reduced melt dripping. The tensile and flammability results, supported by thermogravimetric analysis, have been interpreted in terms of the mechanism of action of each flame retardant/nanoclay type.

  13. Facial transplantation surgery introduction.

    Science.gov (United States)

    Eun, Seok-Chan

    2015-06-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea.

  14. Facial reanimation with gracilis muscle transfer neurotized to cross-facial nerve graft versus masseteric nerve: a comparative study using the FACIAL CLIMA evaluating system.

    Science.gov (United States)

    Hontanilla, Bernardo; Marre, Diego; Cabello, Alvaro

    2013-06-01

    Longstanding unilateral facial paralysis is best addressed with microneurovascular muscle transplantation. Neurotization can be obtained from the cross-facial or the masseter nerve. The authors present a quantitative comparison of both procedures using the FACIAL CLIMA system. Forty-seven patients with complete unilateral facial paralysis underwent reanimation with a free gracilis transplant neurotized to either a cross-facial nerve graft (group I, n=20) or to the ipsilateral masseteric nerve (group II, n=27). Commissural displacement and commissural contraction velocity were measured using the FACIAL CLIMA system. Postoperative intragroup commissural displacement and commissural contraction velocity means of the reanimated versus the normal side were first compared using the independent samples t test. Mean percentage of recovery of both parameters were compared between the groups using the independent samples t test. Significant differences of mean commissural displacement and commissural contraction velocity between the reanimated side and the normal side were observed in group I (p=0.001 and p=0.014, respectively) but not in group II. Intergroup comparisons showed that both commissural displacement and commissural contraction velocity were higher in group II, with significant differences for commissural displacement (p=0.048). Mean percentage of recovery of both parameters was higher in group II, with significant differences for commissural displacement (p=0.042). Free gracilis muscle transfer neurotized by the masseteric nerve is a reliable technique for reanimation of longstanding facial paralysis. Compared with cross-facial nerve graft neurotization, this technique provides better symmetry and a higher degree of recovery. Therapeutic, III.

  15. Flame-retardant carbon nanotube films

    Science.gov (United States)

    Janas, Dawid; Rdest, Monika; Koziol, Krzysztof K. K.

    2017-07-01

    We have demonstrated fire-retardancy properties of a polymer matrix-free CNT film for the first time. As compared with classical fire-retardant materials such as Kevlar, Twaron or Nomex, the CNT film showed a spectrum of advantages. The material is lightweight, flexible and well-adherent to even the most complicated shapes. The results have showed that by using CNTs for fire-retardancy we can extend the operational time almost two-fold, what makes CNTs a much better protection than the solutions employed nowadays. We believe that among other great properties of CNT, their macroscopic assemblies such as CNT films show significant potential for becoming a fire protective coating, which exhibits high performance in not sustaining fire.

  16. Are facial injuries really different? An observational cohort study comparing appearance concern and psychological distress in facial trauma and non-facial trauma patients.

    Science.gov (United States)

    Rahtz, Emmylou; Bhui, Kamaldeep; Hutchison, Iain; Korszun, Ania

    2018-01-01

    Facial injuries are widely assumed to lead to stigma and significant psychosocial burden. Experimental studies of face perception support this idea, but there is very little empirical evidence to guide treatment. This study sought to address the gap. Data were collected from 193 patients admitted to hospital following facial or other trauma. Ninety (90) participants were successfully followed up 8 months later. Participants completed measures of appearance concern and psychological distress (post-traumatic stress symptoms (PTSS), depressive symptoms, anxiety symptoms). Participants were classified by site of injury (facial or non-facial injury). The overall levels of appearance concern were comparable to those of the general population, and there was no evidence of more appearance concern among people with facial injuries. Women and younger people were significantly more likely to experience appearance concern at baseline. Baseline and 8-month psychological distress, although common in the sample, did not differ according to the site of injury. Changes in appearance concern were, however, strongly associated with psychological distress at follow-up. We conclude that although appearance concern is severe among some people with facial injury, it is not especially different to those with non-facial injuries or the general public; changes in appearance concern, however, appear to correlate with psychological distress. We therefore suggest that interventions might focus on those with heightened appearance concern and should target cognitive bias and psychological distress. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Mental Retardation and Parenting Stress

    Directory of Open Access Journals (Sweden)

    Eleni Siamaga

    2011-01-01

    Full Text Available Backround: The presence, upbringing and looking after of a mentally retarded child in the family, can become a threat to the mental health of its parents and is the main predisposing factor of stress for the parents.Aim: The purpose of this systematic review is (a to document the contemporary research bibliography related to the stress of parents with mentally retarded children, (b to aggregate the factors and secondary parameters based on the contemporary research related to the influence of the (child’s mental retardation on the parents and (c to show an intercultural aspect regarding the presence of stress to parents with mentally retarded children.Methods: Systematic review of research articles published in scientific journals included in the international academic databases HEAL-LING, SAGE, ELSEVIER, WILSON, SCIENCEDIRECT, MEDLINE, PUBMED, PsycINFO, Cochrane, EMBASE, SCIRUS and CINAHL having as search criteria and key words the terms («parental stress and mental retardation» [MeSH], «parenting stress and persons with special needs» [MeSH], «mental retardation and family problems» [MeSH], «stress and parents» [MeSH], «parenting and stress» [MeSH], «mental delay and parents» [MeSH], «developmental disabilities and family stress» [MeSH], «intellectual handicap and parenting» [MeSH], «maternal stress and child with disabilities» [MeSH].Discussion: The review has proven that all forms of mental retardation have an important -from a statistic point of viewimpacton the parents’ mental health. Anxiety, stress and depression are common symptoms mentioned by the parents.Additionally, there are individual variables such as the husband-wife relationship, the parents’ approach to their child’s disability, the parental strategies used in order to cope with the daily life of the child’s disability and the behavioural problems of their child, all of which contribute to the increase of the level of parental stress

  18. Misrecognition of facial expressions in delinquents

    Directory of Open Access Journals (Sweden)

    Matsuura Naomi

    2009-09-01

    Full Text Available Abstract Background Previous reports have suggested impairment in facial expression recognition in delinquents, but controversy remains with respect to how such recognition is impaired. To address this issue, we investigated facial expression recognition in delinquents in detail. Methods We tested 24 male adolescent/young adult delinquents incarcerated in correctional facilities. We compared their performances with those of 24 age- and gender-matched control participants. Using standard photographs of facial expressions illustrating six basic emotions, participants matched each emotional facial expression with an appropriate verbal label. Results Delinquents were less accurate in the recognition of facial expressions that conveyed disgust than were control participants. The delinquents misrecognized the facial expressions of disgust as anger more frequently than did controls. Conclusion These results suggest that one of the underpinnings of delinquency might be impaired recognition of emotional facial expressions, with a specific bias toward interpreting disgusted expressions as hostile angry expressions.

  19. Peripheral facial palsy in children.

    Science.gov (United States)

    Yılmaz, Unsal; Cubukçu, Duygu; Yılmaz, Tuba Sevim; Akıncı, Gülçin; Ozcan, Muazzez; Güzel, Orkide

    2014-11-01

    The aim of this study is to evaluate the types and clinical characteristics of peripheral facial palsy in children. The hospital charts of children diagnosed with peripheral facial palsy were reviewed retrospectively. A total of 81 children (42 female and 39 male) with a mean age of 9.2 ± 4.3 years were included in the study. Causes of facial palsy were 65 (80.2%) idiopathic (Bell palsy) facial palsy, 9 (11.1%) otitis media/mastoiditis, and tumor, trauma, congenital facial palsy, chickenpox, Melkersson-Rosenthal syndrome, enlarged lymph nodes, and familial Mediterranean fever (each 1; 1.2%). Five (6.1%) patients had recurrent attacks. In patients with Bell palsy, female/male and right/left ratios were 36/29 and 35/30, respectively. Of them, 31 (47.7%) had a history of preceding infection. The overall rate of complete recovery was 98.4%. A wide variety of disorders can present with peripheral facial palsy in children. Therefore, careful investigation and differential diagnosis is essential. © The Author(s) 2013.

  20. Facial expressions and pair bonds in hylobatids.

    Science.gov (United States)

    Florkiewicz, Brittany; Skollar, Gabriella; Reichard, Ulrich H

    2018-06-06

    Facial expressions are an important component of primate communication that functions to transmit social information and modulate intentions and motivations. Chimpanzees and macaques, for example, produce a variety of facial expressions when communicating with conspecifics. Hylobatids also produce various facial expressions; however, the origin and function of these facial expressions are still largely unclear. It has been suggested that larger facial expression repertoires may have evolved in the context of social complexity, but this link has yet to be tested at a broader empirical basis. The social complexity hypothesis offers a possible explanation for the evolution of complex communicative signals such as facial expressions, because as the complexity of an individual's social environment increases so does the need for communicative signals. We used an intraspecies, pair-focused study design to test the link between facial expressions and sociality within hylobatids, specifically the strength of pair-bonds. The current study compared 206 hr of video and 103 hr of focal animal data for ten hylobatid pairs from three genera (Nomascus, Hoolock, and Hylobates) living at the Gibbon Conservation Center. Using video footage, we explored 5,969 facial expressions along three dimensions: repertoire use, repertoire breadth, and facial expression synchrony [FES]. We then used focal animal data to compare dimensions of facial expressiveness to pair bond strength and behavioral synchrony. Hylobatids in our study overlapped in only half of their facial expressions (50%) with the only other detailed, quantitative study of hylobatid facial expressions, while 27 facial expressions were uniquely observed in our study animals. Taken together, hylobatids have a large facial expression repertoire of at least 80 unique facial expressions. Contrary to our prediction, facial repertoire composition was not significantly correlated with pair bond strength, rates of territorial synchrony

  1. Mental Retardation, Poverty and Community Based Rehabilitation

    Directory of Open Access Journals (Sweden)

    Einar Helander

    2009-10-01

    Full Text Available A person with moderate mental retardation would, in a western country, be "diagnosed" early on in life. Consequently, such a child is likely to be sent for special education. Given the high level of job requirements, such a person is unlikely to be employed in the open market later in life. Mental retardation is one of the most frequent disabilities in most studies, mental retardation is found in about three percent of the population. Persons even with mild mental retardation have very large difficulties finding employment and are for this reason often deprived of opportunities for suitable and productive income generation this is why most stay poor. But disability does not only cause poverty poverty itself causes disability. This study follows an analysis, based on a review of the Swedish programme for mental retardation during the period 1930-2000. It is concluded that in Sweden a very large proportion of mild and moderate mental retardation has been eliminated though the combination of poverty alleviation with a community-based rehabilitation programme. For these situations a pro-active programme analysing and meeting the needs of the target groups should be useful as a means to achieve poverty alleviation.

  2. Facial talon cusps.

    LENUS (Irish Health Repository)

    McNamara, T

    1997-12-01

    This is a report of two patients with isolated facial talon cusps. One occurred on a permanent mandibular central incisor; the other on a permanent maxillary canine. The locations of these talon cusps suggests that the definition of a talon cusp include teeth in addition to the incisor group and be extended to include the facial aspect of teeth.

  3. Imaging the Facial Nerve: A Contemporary Review

    International Nuclear Information System (INIS)

    Gupta, S.; Roehm, P.C.; Mends, F.; Hagiwara, M.; Fatterpekar, G.

    2013-01-01

    Imaging plays a critical role in the evaluation of a number of facial nerve disorders. The facial nerve has a complex anatomical course; thus, a thorough understanding of the course of the facial nerve is essential to localize the sites of pathology. Facial nerve dysfunction can occur from a variety of causes, which can often be identified on imaging. Computed tomography and magnetic resonance imaging are helpful for identifying bony facial canal and soft tissue abnormalities, respectively. Ultrasound of the facial nerve has been used to predict functional outcomes in patients with Bell’s palsy. More recently, diffusion tensor tractography has appeared as a new modality which allows three-dimensional display of facial nerve fibers

  4. Global gravitational anomalies

    International Nuclear Information System (INIS)

    Witten, E.

    1985-01-01

    A general formula for global gauge and gravitational anomalies is derived. It is used to show that the anomaly free supergravity and superstring theories in ten dimensions are all free of global anomalies that might have ruined their consistency. However, it is shown that global anomalies lead to some restrictions on allowed compactifications of these theories. For example, in the case of O(32) superstring theory, it is shown that a global anomaly related to π 7 (O(32)) leads to a Dirac-like quantization condition for the field strength of the antisymmetric tensor field. Related to global anomalies is the question of the number of fermion zero modes in an instanton field. It is argued that the relevant gravitational instantons are exotic spheres. It is shown that the number of fermion zero modes in an instanton field is always even in ten dimensional supergravity. (orig.)

  5. Facial nerve palsy due to birth trauma

    Science.gov (United States)

    Seventh cranial nerve palsy due to birth trauma; Facial palsy - birth trauma; Facial palsy - neonate; Facial palsy - infant ... An infant's facial nerve is also called the seventh cranial nerve. It can be damaged just before or at the time of delivery. ...

  6. Evaluation of Inheritance Pattern in Mentally Retarded Children

    Directory of Open Access Journals (Sweden)

    F Behnaz

    2011-07-01

    Full Text Available Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city. Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd city were reviewed. Results: Of the total, 62.8% of the parents had consanguineous marriage. Mean inbreeding coefficient of offsprings was 0.0713 in third degree related parents versus 0.0156 in non-related parents. Mental retardation was seen in 43.4% of first– degree relatives of children (6.6% of parents and 36.8% of siblings, respectively. Frequency of mental retardation did not differ significantly in both sexes. Pedigree showed inheritance pattern in 43.4% of patients (autosomal recessive, autosomal dominant and x-linked inheritance pattern were seen in 33.75%, 6.9% and 2.8%, respectively, while 37% of patients had no definite inheritance pattern. Abnormal karyotype were seen in 19.4% of patients, 28 of whom(8.75% of all patients had Down syndrome. The prevalence of autosomal recessive inheritance in patients with consanguineous marriages and non family marriages was 62.8 % and 10%, respectively (P=0. 002. Conclusion: Since multiple cases of mental retardation were seen in families and rate of consanguineous marriage was more in parents of mentally retarded children, genetic counseling in consanguinity marriages and families of mentally retarded children can prevent incidence of mental retardation in these families.

  7. Diprosopia revisited in light of the recognized role of neural crest cells in facial development.

    Science.gov (United States)

    Carles, D; Weichhold, W; Alberti, E M; Léger, F; Pigeau, F; Horovitz, J

    1995-01-01

    The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal structures that are duplicated. Complete postmortem examination was performed in search for additional malformations. The face of both fetuses showed a very similar morphologic pattern with duplication of ocular, nasal, and buccal structures. The nasal fossae and the anterior part of the tongue were also duplicated, albeit the posterior part and the pharyngolaryngeal structures were unique. Additional facial clefts were present in both fetuses. Extrafacial anomalies were represented by a craniorachischisis, two fused vertebral columns and, in the older fetus, by a complex cardiac malformation morphologically identical to malformations induced by removal or grafting of additional cardiac neural crest cells in animals. These pathological findings could identify the facial structures that are neural crest derivatives in man. They are similar to those experimentally demonstrated to be neural crest derivatives in animals. In this respect, diprosopia could be considered as the end of a spectrum

  8. Electrical and transcranial magnetic stimulation of the facial nerve: diagnostic relevance in acute isolated facial nerve palsy.

    Science.gov (United States)

    Happe, Svenja; Bunten, Sabine

    2012-01-01

    Unilateral facial weakness is common. Transcranial magnetic stimulation (TMS) allows identification of a conduction failure at the level of the canalicular portion of the facial nerve and may help to confirm the diagnosis. We retrospectively analyzed 216 patients with the diagnosis of peripheral facial palsy. The electrophysiological investigations included the blink reflex, preauricular electrical stimulation and the response to TMS at the labyrinthine part of the canalicular proportion of the facial nerve within 3 days after symptom onset. A similar reduction or loss of the TMS amplitude (p facial palsy without being specific for Bell's palsy. These data shed light on the TMS-based diagnosis of peripheral facial palsy, an ability to localize the site of lesion within the Fallopian channel regardless of the underlying pathology. Copyright © 2012 S. Karger AG, Basel.

  9. Kohn anomalies in superconductors

    International Nuclear Information System (INIS)

    Flatte, M.E.

    1994-01-01

    The detailed behavior of phonon dispersion curves near momenta which span the electronic Fermi sea in a superconductor is presented. An anomaly, similar to the metallic Kohn anomaly, exists in a superconductor's dispersion curves when the frequency of the photon spanning the Fermi sea exceeds twice the superconducting energy gap. This anomaly occurs at approximately the same momentum but is stronger than the normal-state Kohn anomaly. It also survives at finite temperature, unlike the metallic anomaly. Determination of Fermi-surface diameters from the location of these anomalies, therefore, may be more successful in the superconducting phase than in the normal state. However, the superconductor's anomaly fades rapidly with increased phonon frequency and becomes unobservable when the phonon frequency greatly exceeds the gap. This constraint makes these anomalies useful only in high-temperature superconductors such as La 1.85 Sr 0.15 CuO 4

  10. Facial Muscle Coordination in Monkeys During Rhythmic Facial Expressions and Ingestive Movements

    Science.gov (United States)

    Shepherd, Stephen V.; Lanzilotto, Marco; Ghazanfar, Asif A.

    2012-01-01

    Evolutionary hypotheses regarding the origins of communication signals generally, and primate orofacial communication signals in particular, suggest that these signals derive by ritualization of noncommunicative behaviors, notably including ingestive behaviors such as chewing and nursing. These theories are appealing in part because of the prominent periodicities in both types of behavior. Despite their intuitive appeal, however, there are little or no data with which to evaluate these theories because the coordination of muscles innervated by the facial nucleus has not been carefully compared between communicative and ingestive movements. Such data are especially crucial for reconciling neurophysiological assumptions regarding facial motor control in communication and ingestion. We here address this gap by contrasting the coordination of facial muscles during different types of rhythmic orofacial behavior in macaque monkeys, finding that the perioral muscles innervated by the facial nucleus are rhythmically coordinated during lipsmacks and that this coordination appears distinct from that observed during ingestion. PMID:22553017

  11. Nanocellular foam with solid flame retardant

    Science.gov (United States)

    Chen, Liang; Kelly-Rowley, Anne M.; Bunker, Shana P.; Costeux, Stephane

    2017-11-21

    Prepare nanofoam by (a) providing an aqueous solution of a flame retardant dissolved in an aqueous solvent, wherein the flame retardant is a solid at 23.degree. C. and 101 kiloPascals pressure when in neat form; (b) providing a fluid polymer composition selected from a solution of polymer dissolved in a water-miscible solvent or a latex of polymer particles in a continuous aqueous phase; (c) mixing the aqueous solution of flame retardant with the fluid polymer composition to form a mixture; (d) removing water and, if present, solvent from the mixture to produce a polymeric composition having less than 74 weight-percent flame retardant based on total polymeric composition weight; (e) compound the polymeric composition with a matrix polymer to form a matrix polymer composition; and (f) foam the matrix polymer composition into nanofoam having a porosity of at least 60 percent.

  12. Facial Action Units Recognition: A Comparative Study

    NARCIS (Netherlands)

    Popa, M.C.; Rothkrantz, L.J.M.; Wiggers, P.; Braspenning, R.A.C.; Shan, C.

    2011-01-01

    Many approaches to facial expression recognition focus on assessing the six basic emotions (anger, disgust, happiness, fear, sadness, and surprise). Real-life situations proved to produce many more subtle facial expressions. A reliable way of analyzing the facial behavior is the Facial Action Coding

  13. Pediatric facial injuries: It's management.

    Science.gov (United States)

    Singh, Geeta; Mohammad, Shadab; Pal, U S; Hariram; Malkunje, Laxman R; Singh, Nimisha

    2011-07-01

    Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Sixty child patients with facial trauma were selected randomly for this study. On the basis of examination and investigations a suitable management approach involving rest and observation, open or closed reduction and immobilization, trans-osseous (TO) wiring, mini bone plate fixation, splinting and replantation, elevation and fixation of zygoma, etc. were carried out. In our study fall was the predominant cause for most of the facial injuries in children. There was a 1.09% incidence of facial injuries in children up to 16 years of age amongst the total patients. The age-wise distribution of the fracture amongst groups (I, II and III) was found to be 26.67%, 51.67% and 21.67% respectively. Male to female patient ratio was 3:1. The majority of the cases of facial injuries were seen in Group II patients (6-11 years) i.e. 51.67%. The mandibular fracture was found to be the most common fracture (0.60%) followed by dentoalveolar (0.27%), mandibular + midface (0.07) and midface (0.02%) fractures. Most of the mandibular fractures were found in the parasymphysis region. Simple fracture seems to be commonest in the mandible. Most of the mandibular and midface fractures in children were amenable to conservative therapies except a few which required surgical intervention.

  14. Performance-driven facial animation: basic research on human judgments of emotional state in facial avatars.

    Science.gov (United States)

    Rizzo, A A; Neumann, U; Enciso, R; Fidaleo, D; Noh, J Y

    2001-08-01

    Virtual reality is rapidly evolving into a pragmatically usable technology for mental health (MH) applications. As the underlying enabling technologies continue to evolve and allow us to design more useful and usable structural virtual environments (VEs), the next important challenge will involve populating these environments with virtual representations of humans (avatars). This will be vital to create mental health VEs that leverage the use of avatars for applications that require human-human interaction and communication. As Alessi et al.1 pointed out at the 8th Annual Medicine Meets Virtual Reality Conference (MMVR8), virtual humans have mainly appeared in MH applications to "serve the role of props, rather than humans." More believable avatars inhabiting VEs would open up possibilities for MH applications that address social interaction, communication, instruction, assessment, and rehabilitation issues. They could also serve to enhance realism that might in turn promote the experience of presence in VR. Additionally, it will soon be possible to use computer-generated avatars that serve to provide believable dynamic facial and bodily representations of individuals communicating from a distance in real time. This could support the delivery, in shared virtual environments, of more natural human interaction styles, similar to what is used in real life between people. These techniques could enhance communication and interaction by leveraging our natural sensing and perceiving capabilities and offer the potential to model human-computer-human interaction after human-human interaction. To enhance the authenticity of virtual human representations, advances in the rendering of facial and gestural behaviors that support implicit communication will be needed. In this regard, the current paper presents data from a study that compared human raters' judgments of emotional expression between actual video clips of facial expressions and identical expressions rendered on a

  15. Virtual 3-D Facial Reconstruction

    Directory of Open Access Journals (Sweden)

    Martin Paul Evison

    2000-06-01

    Full Text Available Facial reconstructions in archaeology allow empathy with people who lived in the past and enjoy considerable popularity with the public. It is a common misconception that facial reconstruction will produce an exact likeness; a resemblance is the best that can be hoped for. Research at Sheffield University is aimed at the development of a computer system for facial reconstruction that will be accurate, rapid, repeatable, accessible and flexible. This research is described and prototypical 3-D facial reconstructions are presented. Interpolation models simulating obesity, ageing and ethnic affiliation are also described. Some strengths and weaknesses in the models, and their potential for application in archaeology are discussed.

  16. Facial Baroparesis Caused by Scuba Diving

    Directory of Open Access Journals (Sweden)

    Daisuke Kamide

    2012-01-01

    tympanic membrane and right facial palsy without other neurological findings. But facial palsy was disappeared immediately after myringotomy. We considered that the etiology of this case was neuropraxia of facial nerve in middle ear caused by over pressure of middle ear.

  17. Botulinum Toxin (Botox) for Facial Wrinkles

    Science.gov (United States)

    ... Stories Español Eye Health / Eye Health A-Z Botulinum Toxin (Botox) for Facial Wrinkles Sections Botulinum Toxin (Botox) ... Facial Wrinkles How Does Botulinum Toxin (Botox) Work? Botulinum Toxin (Botox) for Facial Wrinkles Leer en Español: La ...

  18. High-intensity facial nerve lesions on T2-weighted images in chronic persistent facial nerve palsy

    Energy Technology Data Exchange (ETDEWEB)

    Kinoshita, T. [Dept. of Radiology, Sendai City Hospital, Sendai (Japan); Dept. of Radiology, Tottori Univ. (Japan); Ishii, K. [Dept. of Radiology, Sendai City Hospital, Sendai (Japan); Okitsu, T. [Dept. of Otolaryngology, Sendai City Hospital (Japan); Ogawa, T. [Dept. of Radiology, Tottori Univ. (Japan); Okudera, T. [Dept. of Radiology, Research Inst. of Brain and Blood Vessels-Akita, Akita (Japan)

    2001-05-01

    Our aim was to estimate the value of MRI in detecting irreversibly paralysed facial nerves. We examined 95 consecutive patients with a facial nerve palsy (14 with a persistent palsy, and 81 with good recovery), using a 1.0 T unit, with T2-weighted and contrast-enhanced T1-weighted images. The geniculate ganglion and tympanic segment had gave high signal on T2-weighted images in the chronic stage of persistent palsy, but not in acute palsy. The enhancement pattern of the facial nerve in the chronic persistent facial nerve palsy is similar to that in the acute palsy with good recovery. These findings suggest that T2-weighted MRI can be used to show severely damaged facial nerves. (orig.)

  19. Operant conditioning of facial displays of pain.

    Science.gov (United States)

    Kunz, Miriam; Rainville, Pierre; Lautenbacher, Stefan

    2011-06-01

    The operant model of chronic pain posits that nonverbal pain behavior, such as facial expressions, is sensitive to reinforcement, but experimental evidence supporting this assumption is sparse. The aim of the present study was to investigate in a healthy population a) whether facial pain behavior can indeed be operantly conditioned using a discriminative reinforcement schedule to increase and decrease facial pain behavior and b) to what extent these changes affect pain experience indexed by self-ratings. In the experimental group (n = 29), the participants were reinforced every time that they showed pain-indicative facial behavior (up-conditioning) or a neutral expression (down-conditioning) in response to painful heat stimulation. Once facial pain behavior was successfully up- or down-conditioned, respectively (which occurred in 72% of participants), facial pain displays and self-report ratings were assessed. In addition, a control group (n = 11) was used that was yoked to the reinforcement plans of the experimental group. During the conditioning phases, reinforcement led to significant changes in facial pain behavior in the majority of the experimental group (p .136). Fine-grained analyses of facial muscle movements revealed a similar picture. Furthermore, the decline in facial pain displays (as observed during down-conditioning) strongly predicted changes in pain ratings (R(2) = 0.329). These results suggest that a) facial pain displays are sensitive to reinforcement and b) that changes in facial pain displays can affect self-report ratings.

  20. Reconocimiento facial

    OpenAIRE

    Urtiaga Abad, Juan Alfonso

    2014-01-01

    El presente proyecto trata sobre uno de los campos más problemáticos de la inteligencia artificial, el reconocimiento facial. Algo tan sencillo para las personas como es reconocer una cara conocida se traduce en complejos algoritmos y miles de datos procesados en cuestión de segundos. El proyecto comienza con un estudio del estado del arte de las diversas técnicas de reconocimiento facial, desde las más utilizadas y probadas como el PCA y el LDA, hasta técnicas experimentales que utilizan ...

  1. Facial Displays Are Tools for Social Influence.

    Science.gov (United States)

    Crivelli, Carlos; Fridlund, Alan J

    2018-05-01

    Based on modern theories of signal evolution and animal communication, the behavioral ecology view of facial displays (BECV) reconceives our 'facial expressions of emotion' as social tools that serve as lead signs to contingent action in social negotiation. BECV offers an externalist, functionalist view of facial displays that is not bound to Western conceptions about either expressions or emotions. It easily accommodates recent findings of diversity in facial displays, their public context-dependency, and the curious but common occurrence of solitary facial behavior. Finally, BECV restores continuity of human facial behavior research with modern functional accounts of non-human communication, and provides a non-mentalistic account of facial displays well-suited to new developments in artificial intelligence and social robotics. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Does facial resemblance enhance cooperation?

    Directory of Open Access Journals (Sweden)

    Trang Giang

    Full Text Available Facial self-resemblance has been proposed to serve as a kinship cue that facilitates cooperation between kin. In the present study, facial resemblance was manipulated by morphing stimulus faces with the participants' own faces or control faces (resulting in self-resemblant or other-resemblant composite faces. A norming study showed that the perceived degree of kinship was higher for the participants and the self-resemblant composite faces than for actual first-degree relatives. Effects of facial self-resemblance on trust and cooperation were tested in a paradigm that has proven to be sensitive to facial trustworthiness, facial likability, and facial expression. First, participants played a cooperation game in which the composite faces were shown. Then, likability ratings were assessed. In a source memory test, participants were required to identify old and new faces, and were asked to remember whether the faces belonged to cooperators or cheaters in the cooperation game. Old-new recognition was enhanced for self-resemblant faces in comparison to other-resemblant faces. However, facial self-resemblance had no effects on the degree of cooperation in the cooperation game, on the emotional evaluation of the faces as reflected in the likability judgments, and on the expectation that a face belonged to a cooperator rather than to a cheater. Therefore, the present results are clearly inconsistent with the assumption of an evolved kin recognition module built into the human face recognition system.

  3. Facial skin care products and cosmetics.

    Science.gov (United States)

    Draelos, Zoe Diana

    2014-01-01

    Facial skin care products and cosmetics can both aid or incite facial dermatoses. Properly selected skin care can create an environment for barrier repair aiding in the re-establishment of a healing biofilm and diminution of facial redness; however, skin care products that aggressively remove intercellular lipids or cause irritation must be eliminated before the red face will resolve. Cosmetics are an additive variable either aiding or challenging facial skin health. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Introduction to anomalies

    International Nuclear Information System (INIS)

    Alvarez-Gaume, L.

    1986-01-01

    These lectures are dedicated to the study of the recent progress and implications of anomalies in quantum field theory. In this introduction the author recapitulates some of the highlights in the history of the subject. The outline of these lectures is as follows: Section II contains a quick review of spinors in Euclidean and Minkowski space, some other group theory results relevant for the computation of anomalies in various dimensions, and an exposition of the index theorem. Section III starts the analysis of fermion determinants and chiral effective actions by deriving the non-Abelian anomaly from index theory. Using the results of Section II, the anomaly cancellation recently discovered by Green and Schwarz will be presented in Section IV as well as the connection of these results of Section III with the descent equations and the Wess-Zumino-Witten Lagrangians. Section V contains the generalization of anomalies to σ-models and some of its application in string theory. Section VI will deal with the anomalies from the Hamiltonian point of view. An exact formula for the imaginary part of the effective action for chiral fermions in the presence of arbitrary external gauge and gravitational fields will be derived in Section VII, and used in Section VIII for the study of global anomalies. 85 references

  5. Algebraic structure of chiral anomalies

    International Nuclear Information System (INIS)

    Stora, R.

    1985-09-01

    I will describe first the algebraic aspects of chiral anomalies, exercising however due care about the topological delicacies. I will illustrate the structure and methods in the context of gauge anomalies and will eventually make contact with results obtained from index theory. I will go into two sorts of generalizations: on the one hand, generalizing the algebraic set up yields e.g. gravitational and mixed gauge anomalies, supersymmetric gauge anomalies, anomalies in supergravity theories; on the other hand most constructions applied to the cohomologies which characterize anomalies easily extend to higher cohomologies. Section II is devoted to a description of the general set up as it applies to gauge anomalies. Section III deals with a number of algebraic set ups which characterize more general types of anomalies: gravitational and mixed gauge anomalies, supersymmetric gauge anomalies, anomalies in supergravity theories. It also includes brief remarks on σ models and a reminder on the full BRST algebra of quantized gauge theories

  6. Chiral anomalies and differential geometry

    International Nuclear Information System (INIS)

    Zumino, B.

    1983-10-01

    Some properties of chiral anomalies are described from a geometric point of view. Topics include chiral anomalies and differential forms, transformation properties of the anomalies, identification and use of the anomalies, and normalization of the anomalies. 22 references

  7. Pseudotumoural hypertrophic neuritis of the facial nerve

    OpenAIRE

    Zanoletti, E; Mazzoni, A; Barbò, R

    2008-01-01

    In a retrospective study of our cases of recurrent paralysis of the facial nerve of tumoural and non-tumoural origin, a tumour-like lesion of the intra-temporal course of the facial nerve, mimicking facial nerve schwannoma, was found and investigated in 4 cases. This was defined as, pseudotumoral hypertrophic neuritis of the facial nerve. The picture was one of recurrent acute facial palsy with incomplete recovery and imaging of a benign tumour. It was different from the well-known recurrent ...

  8. Political Philosophy and the Mentally Retarded.

    Science.gov (United States)

    Stanovich, Keith E.

    The effects of Social Darwinism, eugenics, and contemporary political conservatism on the status of advocacy efforts for the mentally retarded are reviewed. Provided are historical sketches of Social Darwinism, which viewed the retarded as members of an inferior race, and eugenics, which argued for sterilization of the "genetically…

  9. The Mentally Retarded Offender and Corrections.

    Science.gov (United States)

    Santamour, Miles; West, Bernadette

    The booklet provides an overview of the issues involved in correctional rehabilitation for the mentally retarded offender. Reviewed are clinical and legal definitions of criminal behavior and retardation, and discussed are such issues as law enforcement and court proceedings problems, pros and cons of special facilities, labeling, normalization,…

  10. Imaging of the facial nerve

    Energy Technology Data Exchange (ETDEWEB)

    Veillon, F. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France)], E-mail: Francis.Veillon@chru-strasbourg.fr; Ramos-Taboada, L.; Abu-Eid, M. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France); Charpiot, A. [Service d' ORL, Hopital de Hautepierre, 67098 Strasbourg Cedex (France); Riehm, S. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France)

    2010-05-15

    The facial nerve is responsible for the motor innervation of the face. It has a visceral motor function (lacrimal, submandibular, sublingual glands and secretion of the nose); it conveys a great part of the taste fibers, participates to the general sensory of the auricle (skin of the concha) and the wall of the external auditory meatus. The facial mimic, production of tears, nasal flow and salivation all depend on the facial nerve. In order to image the facial nerve it is mandatory to be knowledgeable about its normal anatomy including the course of its efferent and afferent fibers and about relevant technical considerations regarding CT and MR to be able to achieve high-resolution images of the nerve.

  11. Clustering and Recurring Anomaly Identification: Recurring Anomaly Detection System (ReADS)

    Science.gov (United States)

    McIntosh, Dawn

    2006-01-01

    This viewgraph presentation reviews the Recurring Anomaly Detection System (ReADS). The Recurring Anomaly Detection System is a tool to analyze text reports, such as aviation reports and maintenance records: (1) Text clustering algorithms group large quantities of reports and documents; Reduces human error and fatigue (2) Identifies interconnected reports; Automates the discovery of possible recurring anomalies; (3) Provides a visualization of the clusters and recurring anomalies We have illustrated our techniques on data from Shuttle and ISS discrepancy reports, as well as ASRS data. ReADS has been integrated with a secure online search

  12. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    DEFF Research Database (Denmark)

    Sehested, Line T; Møller, Rikke S; Bache, Iben

    2010-01-01

    We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

  13. Preparation of Flame Retardant Modified with Titanate for Asphalt Binder

    Directory of Open Access Journals (Sweden)

    Bo Li

    2014-01-01

    Full Text Available Improving the compatibility between flame retardant and asphalt is a difficult task due to the complex nature of the materials. This study explores a low dosage compound flame retardant and seeks to improve the compatibility between flame retardants and asphalt. An orthogonal experiment was designed taking magnesium hydroxide, ammonium polyphosphate, and melamine as factors. The oil absorption and activation index were tested to determine the effect of titanate on the flame retardant additive. The pavement performance test was conducted to evaluate the effect of the flame retardant additive. Oxygen index test was conducted to confirm the effect of flame retardant on flame ability of asphalt binder. The results of this study showed that the new composite flame retardant is more effective in improving the compatibility between flame retardant and asphalt and reducing the limiting oxygen index of asphalt binder tested in this study.

  14. Tracheobronchial Branching Anomalies

    International Nuclear Information System (INIS)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick; Park, A Young

    2010-01-01

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  15. Tracheobronchial Branching Anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Min Ji; Kim, Young Tong; Jou, Sung Shick [Soonchunhyang University, Cheonan Hospital, Cheonan (Korea, Republic of); Park, A Young [Soonchunhyang University College of Medicine, Asan (Korea, Republic of)

    2010-04-15

    There are various congenital anomalies with respect to the number, length, diameter, and location of tracheobronchial branching patterns. The tracheobronchial anomalies are classified into two groups. The first one, anomalies of division, includes tracheal bronchus, cardiac bronchus, tracheal diverticulum, pulmonary isomerism, and minor variations. The second one, dysmorphic lung, includes lung agenesis-hypoplasia complex and lobar agenesis-aplasia complex

  16. Forensic Facial Reconstruction: The Final Frontier.

    Science.gov (United States)

    Gupta, Sonia; Gupta, Vineeta; Vij, Hitesh; Vij, Ruchieka; Tyagi, Nutan

    2015-09-01

    Forensic facial reconstruction can be used to identify unknown human remains when other techniques fail. Through this article, we attempt to review the different methods of facial reconstruction reported in literature. There are several techniques of doing facial reconstruction, which vary from two dimensional drawings to three dimensional clay models. With the advancement in 3D technology, a rapid, efficient and cost effective computerized 3D forensic facial reconstruction method has been developed which has brought down the degree of error previously encountered. There are several methods of manual facial reconstruction but the combination Manchester method has been reported to be the best and most accurate method for the positive recognition of an individual. Recognition allows the involved government agencies to make a list of suspected victims'. This list can then be narrowed down and a positive identification may be given by the more conventional method of forensic medicine. Facial reconstruction allows visual identification by the individual's family and associates to become easy and more definite.

  17. Magnetic resonance imaging of facial muscles

    Energy Technology Data Exchange (ETDEWEB)

    Farrugia, M.E. [Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Oxford (United Kingdom)], E-mail: m.e.farrugia@doctors.org.uk; Bydder, G.M. [Department of Radiology, University of California, San Diego, CA 92103-8226 (United States); Francis, J.M.; Robson, M.D. [OCMR, Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford (United Kingdom)

    2007-11-15

    Facial and tongue muscles are commonly involved in patients with neuromuscular disorders. However, these muscles are not as easily accessible for biopsy and pathological examination as limb muscles. We have previously investigated myasthenia gravis patients with MuSK antibodies for facial and tongue muscle atrophy using different magnetic resonance imaging sequences, including ultrashort echo time techniques and image analysis tools that allowed us to obtain quantitative assessments of facial muscles. This imaging study had shown that facial muscle measurement is possible and that useful information can be obtained using a quantitative approach. In this paper we aim to review in detail the methods that we applied to our study, to enable clinicians to study these muscles within the domain of neuromuscular disease, oncological or head and neck specialties. Quantitative assessment of the facial musculature may be of value in improving the understanding of pathological processes occurring within facial muscles in certain neuromuscular disorders.

  18. Magnetic resonance imaging of facial muscles

    International Nuclear Information System (INIS)

    Farrugia, M.E.; Bydder, G.M.; Francis, J.M.; Robson, M.D.

    2007-01-01

    Facial and tongue muscles are commonly involved in patients with neuromuscular disorders. However, these muscles are not as easily accessible for biopsy and pathological examination as limb muscles. We have previously investigated myasthenia gravis patients with MuSK antibodies for facial and tongue muscle atrophy using different magnetic resonance imaging sequences, including ultrashort echo time techniques and image analysis tools that allowed us to obtain quantitative assessments of facial muscles. This imaging study had shown that facial muscle measurement is possible and that useful information can be obtained using a quantitative approach. In this paper we aim to review in detail the methods that we applied to our study, to enable clinicians to study these muscles within the domain of neuromuscular disease, oncological or head and neck specialties. Quantitative assessment of the facial musculature may be of value in improving the understanding of pathological processes occurring within facial muscles in certain neuromuscular disorders

  19. Flame Retardants Used in Flexible Polyurethane Foam

    Science.gov (United States)

    The partnership project on flame retardants in furniture seeks to update the health and environmental profiles of flame-retardant chemicals that meet fire safety standards for upholstered consumer products with polyurethane foam

  20. Perceived functional impact of abnormal facial appearance.

    Science.gov (United States)

    Rankin, Marlene; Borah, Gregory L

    2003-06-01

    Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial

  1. CHARGE Association

    Directory of Open Access Journals (Sweden)

    Semanti Chakraborty

    2012-01-01

    Full Text Available We present here a case of 17-year-old boy from Kolkata presenting with obesity, bilateral gynecomastia, mental retardation, and hypogonadotrophic hypogonadism. The patient weighed 70 kg and was of 153 cm height. Facial asymmetry (unilateral facial palsy, gynecomastia, decreased pubic and axillary hair, small penis, decreased right testicular volume, non-palpable left testis, and right-sided congenital inguinal hernia was present. The patient also had disc coloboma, convergent squint, microcornea, microphthalmia, pseudohypertelorism, low set ears, short neck, and choanalatresia. He had h/o VSD repaired with patch. Laboratory examination revealed haemoglobin 9.9 mg/dl, urea 24 mg/dl, creatinine 0.68 mg/dl. IGF1 77.80 ng/ml (decreased for age, GH <0.05 ng/ml, testosterone 0.25 ng/ml, FSH-0.95 ΅IU/ml, LH 0.60 ΅IU/ml. ACTH, 8:00 A.M cortisol, FT3, FT4, TSH, estradiol, DHEA-S, lipid profile, and LFT was within normal limits. Prolactin was elevated at 38.50 ng/ml. The patient′s karyotype was 46XY. Echocardiography revealed ventricularseptal defect closed with patch, grade 1 aortic regurgitation, and ejection fraction 67%. Ultrasound testis showed small right testis within scrotal sac and undescended left testis within left inguinal canal. CT scan paranasal sinuses revealed choanalatresia and deviation of nasal septum to the right. Sonomammography revealed bilateral proliferation of fibroglandular elements predominantly in subareoalar region of breasts. MRI of brain and pituitary region revealed markedly atrophic pituitary gland parenchyma with preserved infundibulum and hypothalamus and widened suprasellar cistern. The CHARGE association is an increasingly recognized non-random pattern of congenital anomalies comprising of coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or deafness. [1] These anomalies have a higher probability of occurring together. In this report, we have

  2. SLEEP DISORDERS IN MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    I. A. Kelmanson

    2014-01-01

    Full Text Available The paper presents the study of the association between sleep disturbances and mental retardation in children. Attention is paid to the instant connection between sleep neurophysiology and intellectual progress, as well as between sleep disorders and the pathogenesis of mental retardation in children. The data on characteristic forms of sleep disturbances, including bed-time resistance, frequent night awakenings, parasomnias, abnormal sleep structure, and notably reduced REM-sleep proportion are provided. The potential role of abnormal melatonin production in the origins of sleep disturbances in children with mental retardation is discussed. Certain approaches to pharmacological and non-pharmacological corrections of sleep disorders are outlined.

  3. Possibilities of pfysiotherapy in facial nerve paresis

    OpenAIRE

    ZIFČÁKOVÁ, Šárka

    2015-01-01

    The bachelor thesis addresses paresis of the facial nerve. The facial nerve paresis is a rather common illness, which cannot be often cured without consequences despite all the modern treatments. The paresis of the facial nerve occurs in two forms, central and peripheral. A central paresis is a result of a lesion located above the motor nucleus of the facial nerve. A peripheral paresis is caused by a lesion located either in the location of the motor nucleus or in the course of the facial ner...

  4. Facial colliculus syndrome

    Directory of Open Access Journals (Sweden)

    Rupinderjeet Kaur

    2016-01-01

    Full Text Available A male patient presented with horizontal diplopia and conjugate gaze palsy. Magnetic resonance imaging (MRI revealed acute infarct in right facial colliculus which is an anatomical elevation on the dorsal aspect of Pons. This elevation is due the 6th cranial nerve nucleus and the motor fibres of facial nerve which loop dorsal to this nucleus. Anatomical correlation of the clinical symptoms is also depicted in this report.

  5. Noncitizen: Plight of the Mentally Retarded

    Science.gov (United States)

    Skarnulis, Ed

    1974-01-01

    Mentally retarded citizens have been denied their human and civil rights, not only by the public, but by professionals--including social workers. The author claims that most programs for the mentally retarded are, at best, dehumanizing. Professionals have an ethical obligation to refuse to refer children to such programs. (Author)

  6. Development of highly fire-retardant irradiated polyolefin cables

    Energy Technology Data Exchange (ETDEWEB)

    Ueno, Keiji; Inui, Toshifumi; Uda, Ikujiro (Sumitomo Electric Industries Ltd., Osaka (Japan))

    1982-12-01

    In recent years, motors, automobiles, heaters, etc., have been made into light weight and compact form in view of labour-saving and energy-saving. For this purpose, the wires for the electrical appliances used for these equipment are required to reduce insulation thickness and to improve heat resistance. On the other hand, the requirement for fire-retardant property has become severer than before from the viewpoint of safety. As an insulation for the wires which meets such requirement, the polyolefin cross-linked by irradiation was investigated, and the heat-resistant, highly fire-retardant, polyolefin-insulated wires have been developed, which have passed vertical combustion test (VW-1) and have the insulation thickness of 0.4 mm (voltage rating 300V) and UL standard 125 deg C and 150 deg C grades. Fire-retardant polyolefin resin is normally obtained by adding halogen series flame retarders. The selection of flame retarders requires the investigation on high thermal stability, high flame retardation, no impedance to cross-linking, and good dispersion into polymers. The evaluation of heat resistance performed on two points, thermal aging and thermal deformation. The use of oxidation inhibitors is indispensable to improve the anti-thermal aging capability, but it is important to balance the requirements well by combining oxidation inhibitors, considering thermal deformation, colouring and discolouration. By comparative test with silicone rubber, cross-linked polyethylene and cross-linked PVC-insulated wires, the characteristics of highly fire-retardant wires, insulated with polyethylene cross-linked by irradiation, are described about the fire retardation, thermal deformation, thermal aging resistance, electrical characteristics and oil resistance.

  7. Cranio-facial clefts in pre-hispanic America.

    Science.gov (United States)

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. [Surgical treatment in otogenic facial nerve palsy].

    Science.gov (United States)

    Feng, Guo-Dong; Gao, Zhi-Qiang; Zhai, Meng-Yao; Lü, Wei; Qi, Fang; Jiang, Hong; Zha, Yang; Shen, Peng

    2008-06-01

    To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, Hunt syndrome, tumor and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy. The clinical characters of 24 patients with otogenic facial nerve palsy because of the four different auris diseases were retrospectively analyzed, all the cases were performed surgical management from October 1991 to March 2007. Facial nerve function was evaluated with House-Brackmann (HB) grading system. The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to Hunt syndrome, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor. All cases were treated with operations included facial nerve decompression, lesion resection with facial nerve decompression and lesion resection without facial nerve decompression, 1 patient's facial nerve was resected because of the tumor. According to HB grade system, I degree recovery was attained in 4 cases, while II degree in 10 cases, III degree in 6 cases, IV degree in 2 cases, V degree in 2 cases and VI degree in 1 case. Removing the lesions completely was the basic factor to the surgery of otogenic facial palsy, moreover, it was important to have facial nerve decompression soon after lesion removal.

  9. Facial identity and facial expression are initially integrated at visual perceptual stages of face processing.

    Science.gov (United States)

    Fisher, Katie; Towler, John; Eimer, Martin

    2016-01-08

    It is frequently assumed that facial identity and facial expression are analysed in functionally and anatomically distinct streams within the core visual face processing system. To investigate whether expression and identity interact during the visual processing of faces, we employed a sequential matching procedure where participants compared either the identity or the expression of two successively presented faces, and ignored the other irrelevant dimension. Repetitions versus changes of facial identity and expression were varied independently across trials, and event-related potentials (ERPs) were recorded during task performance. Irrelevant facial identity and irrelevant expression both interfered with performance in the expression and identity matching tasks. These symmetrical interference effects show that neither identity nor expression can be selectively ignored during face matching, and suggest that they are not processed independently. N250r components to identity repetitions that reflect identity matching mechanisms in face-selective visual cortex were delayed and attenuated when there was an expression change, demonstrating that facial expression interferes with visual identity matching. These findings provide new evidence for interactions between facial identity and expression within the core visual processing system, and question the hypothesis that these two attributes are processed independently. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Perceptually Valid Facial Expressions for Character-Based Applications

    Directory of Open Access Journals (Sweden)

    Ali Arya

    2009-01-01

    Full Text Available This paper addresses the problem of creating facial expression of mixed emotions in a perceptually valid way. The research has been done in the context of a “game-like” health and education applications aimed at studying social competency and facial expression awareness in autistic children as well as native language learning, but the results can be applied to many other applications such as games with need for dynamic facial expressions or tools for automating the creation of facial animations. Most existing methods for creating facial expressions of mixed emotions use operations like averaging to create the combined effect of two universal emotions. Such methods may be mathematically justifiable but are not necessarily valid from a perceptual point of view. The research reported here starts by user experiments aiming at understanding how people combine facial actions to express mixed emotions, and how the viewers perceive a set of facial actions in terms of underlying emotions. Using the results of these experiments and a three-dimensional emotion model, we associate facial actions to dimensions and regions in the emotion space, and create a facial expression based on the location of the mixed emotion in the three-dimensional space. We call these regionalized facial actions “facial expression units.”

  11. Intraoperative facial motor evoked potentials monitoring with transcranial electrical stimulation for preservation of facial nerve function in patients with large acoustic neuroma

    Institute of Scientific and Technical Information of China (English)

    LIU Bai-yun; TIAN Yong-ji; LIU Wen; LIU Shu-ling; QIAO Hui; ZHANG Jun-ting; JIA Gui-jun

    2007-01-01

    Background Although various monitoring techniques have been used routinely in the treatment of the lesions in the skull base, iatrogenic facial paresis or paralysis remains a significant clinical problem. The aim of this study was to investigate the effect of intraoperative facial motor evoked potentials monitoring with transcranial electrical stimulation on preservation of facial nerve function.Method From January to November 2005, 19 patients with large acoustic neuroma were treated using intraoperative facial motor evoked potentials monitoring with transcranial electrical stimulation (TCEMEP) for preservation of facial nerve function. The relationship between the decrease of MEP amplitude after tumor removal and the postoperative function of the facial nerve was analyzed.Results MEP amplitude decreased more than 75% in 11 patients, of which 6 presented significant facial paralysis (H-B grade 3), and 5 had mild facial paralysis (H-B grade 2). In the other 8 patients, whose MEP amplitude decreased less than 75%, 1 experienced significant facial paralysis, 5 had mild facial paralysis, and 2 were normal.Conclusions Intraoperative TCEMEP can be used to predict postoperative function of the facial nerve. The decreased MEP amplitude above 75 % is an alarm point for possible severe facial paralysis.

  12. What do facial expressions of emotion express in young children? The relationship between facial display and EMG measures

    Directory of Open Access Journals (Sweden)

    Michela Balconi

    2014-04-01

    Full Text Available The present paper explored the relationship between emotional facial response and electromyographic modulation in children when they observe facial expression of emotions. Facial responsiveness (evaluated by arousal and valence ratings and psychophysiological correlates (facial electromyography, EMG were analyzed when children looked at six facial expressions of emotions (happiness, anger, fear, sadness, surprise and disgust. About EMG measure, corrugator and zygomatic muscle activity was monitored in response to different emotional types. ANOVAs showed differences for both EMG and facial response across the subjects, as a function of different emotions. Specifically, some emotions were well expressed by all the subjects (such as happiness, anger and fear in terms of high arousal, whereas some others were less level arousal (such as sadness. Zygomatic activity was increased mainly for happiness, from one hand, corrugator activity was increased mainly for anger, fear and surprise, from the other hand. More generally, EMG and facial behavior were highly correlated each other, showing a “mirror” effect with respect of the observed faces.

  13. Facial Expression Recognition Through Machine Learning

    Directory of Open Access Journals (Sweden)

    Nazia Perveen

    2015-08-01

    Full Text Available Facial expressions communicate non-verbal cues which play an important role in interpersonal relations. Automatic recognition of facial expressions can be an important element of normal human-machine interfaces it might likewise be utilized as a part of behavioral science and in clinical practice. In spite of the fact that people perceive facial expressions for all intents and purposes immediately solid expression recognition by machine is still a challenge. From the point of view of automatic recognition a facial expression can be considered to comprise of disfigurements of the facial parts and their spatial relations or changes in the faces pigmentation. Research into automatic recognition of the facial expressions addresses the issues encompassing the representation and arrangement of static or dynamic qualities of these distortions or face pigmentation. We get results by utilizing the CVIPtools. We have taken train data set of six facial expressions of three persons and for train data set purpose we have total border mask sample 90 and 30 border mask sample for test data set purpose and we use RST- Invariant features and texture features for feature analysis and then classified them by using k- Nearest Neighbor classification algorithm. The maximum accuracy is 90.

  14. Traumatic facial nerve palsy: CT patterns of facial nerve canal fracture and correlation with clinical severity

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Jae Cheol; Kim, Sang Joon; Park, Hyun Min; Lee, Young Suk; Lee, Jee Young [College of Medicine, Dankook Univ., Chonan (Korea, Republic of)

    2002-07-01

    To analyse the patterns of facial nerve canal injury seen at temporal bone computed tomography (CT) in patients with traumatic facial nerve palsy and to correlate these with clinical manifestations and outcome. Thirty cases of temporal bone CT in 29 patients with traumatic facial nerve palsy were analyzed with regard to the patterns of facial nerve canal involvement. The patterns were correlated with clinical grade, the electroneurographic (ENoG) findings, and clinical outcome. For clinical grading, the House-Brackmann scale was used, as follows:grade I-IV, partial palsy group; grade V-VI, complete palsy group. The electroneuronographic findings were categorized as mild to moderate (below 90%) or severe (90% and over) degeneration. In 25 cases, the bony wall of the facial nerve canals was involved directly (direct finding): discontinuity of the bony wall was onted in 22 cases, bony spicules in ten, and bony wall displacement in five. Indirect findings were canal widening in nine cases and adjacent bone fracture in two. In one case, there were no direct or indirect findings. All cases in which there was complete palsy (n=8) showed one or more direct findings including spicules in six, while in the incomplete palsy group (n=22), 17 cases showed direct findings. In the severe degeneration group (n=13), on ENog, 12 cases demonstrated direct findings, including spicules in nine cases. In 24 patients, symptoms of facial palsy showed improvement at follow up evaluation. Four of the five patients in whom symptoms did not improve had spicules. Among ten patients with spicules, five underwent surgery and symptoms improved in four of these; among the five patients not operated on , symptoms did not improve in three. In most patients with facial palsy after temporal bone injury, temporal bone CT revealed direct or indirect facial nerve canal involvement, and in complete palsy or severe degeneration groups, there were direct findings in most cases. We believe that meticulous

  15. Intratemporal Facial Nerve Paralysis- A Three Year Study

    Directory of Open Access Journals (Sweden)

    Anirban Ghosh

    2016-08-01

    Full Text Available Introduction This study on intratemporal facial paralysis is an attempt to understand the aetiology of facial nerve paralysis, effect of different management protocols and the outcome after long-term follow-up. Materials and Methods A prospective longitudinal study was conducted from September 2005 to August 2008 at the Department of Otorhinolaryngology of a medical college in Kolkata comprising 50 patients of intratemporal facial palsy. All cases were periodically followed up for at least 6 months and their prognostic outcome along with different treatment options were analyzed. Result Among different causes of facial palsy, Bell’s palsy is the commonest cause; whereas cholesteatoma and granulation were common findings in otogenic facial palsy. Traumatic facial palsies were exclusively due to longitudinal fracture of temporal bone running through geniculate ganglion. Herpes zoster oticus and neoplasia related facial palsies had significantly poorer outcome. Discussion Otogenic facial palsy showed excellent outcome after mastoid exploration and facial decompression. Transcanal decompression was performed in traumatic facial palsies showing inadequate recovery. Complete removal of cholesteatoma over dehiscent facial nerve gave better postoperative recovery. Conclusion The stapedial reflex test is the most objective and reproducible of all topodiagnostic tests. Return of the stapedial reflex within 3 weeks of injury indicates good prognosis. Bell’s palsy responded well to conservative measures. All traumatic facial palsies were due to longitudinal fracture and 2/3rd of these patients showed favourable outcome with medical therapy.

  16. Social Use of Facial Expressions in Hylobatids

    Science.gov (United States)

    Scheider, Linda; Waller, Bridget M.; Oña, Leonardo; Burrows, Anne M.; Liebal, Katja

    2016-01-01

    Non-human primates use various communicative means in interactions with others. While primate gestures are commonly considered to be intentionally and flexibly used signals, facial expressions are often referred to as inflexible, automatic expressions of affective internal states. To explore whether and how non-human primates use facial expressions in specific communicative interactions, we studied five species of small apes (gibbons) by employing a newly established Facial Action Coding System for hylobatid species (GibbonFACS). We found that, despite individuals often being in close proximity to each other, in social (as opposed to non-social contexts) the duration of facial expressions was significantly longer when gibbons were facing another individual compared to non-facing situations. Social contexts included grooming, agonistic interactions and play, whereas non-social contexts included resting and self-grooming. Additionally, gibbons used facial expressions while facing another individual more often in social contexts than non-social contexts where facial expressions were produced regardless of the attentional state of the partner. Also, facial expressions were more likely ‘responded to’ by the partner’s facial expressions when facing another individual than non-facing. Taken together, our results indicate that gibbons use their facial expressions differentially depending on the social context and are able to use them in a directed way in communicative interactions with other conspecifics. PMID:26978660

  17. Double trisomy 48,XXX,+18 with multiple dysmorphic features.

    Science.gov (United States)

    Jiang, Zi-Yan; Wu, Xiao-Hui; Zou, Chao-Chun

    2015-02-01

    Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. Case report and literature review. A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed. These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

  18. Anxious-retarded depression: relation to family history of depression

    NARCIS (Netherlands)

    de Winter, Remco F. P.; Zwinderman, Koos H.; Goekoop, Jaap G.

    2004-01-01

    Anxious-retarded depression is a two-dimensionally defined subcategory of depression based on high scores for both anxiety and retardation. The anxious-retarded subcategory is related to melancholia as defined by DSM-IV. Patients with this diagnosis exhibit elevated plasma arginine vasopressin (AVP)

  19. Development of flame retardant, radiation resistant insulating materials

    Energy Technology Data Exchange (ETDEWEB)

    Hagiwara, M.

    1984-01-01

    On the cables used for nuclear power stations, in particular those ranked as IE class, flame retardation test, simulated LOCA environment test, radiation resistance test and so on are imposed. The results of the evaluation of performance by these tests largely depend on the insulating materials mainly made of polymers. Ethylene propylene copolymer rubber has been widely used as cable insulator because of its electrical characteristics, workability, economy and relatively good radiation resistance, but it is combustible, therefore, in the practical use, it is necessary to make it fire resistant. The author et al. have advanced the research on the molecular design of new fire retarding materials, and successfully developed acenaphthylene bromide condensate, which is not only fire resistant but also effective for improving radiation resistance. The condition of flame retardant, radiation resistant auxiliary agents is explained, and there are additive type and reaction type in fire retarding materials. The synthesis of acenaphthylene bromide condensate and its effect of giving flame retardant and radiation resistant properties are reported. The characteristics of the cables insulated with the flame retardant ethylene propylene rubber containing acenaphthylene bromide condensate were tested, and the results are shown. (Kako, I.).

  20. Enhanced MRI in patients with facial palsy

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Kato, Tsutomu; Ushiro, Koichi; Kitajiri, Masanori; Yamashita, Toshio; Kumazawa, Tadami; Tanaka, Yoshimasa

    1991-01-01

    We performed Gd-DTPA-enhanced magnetic resonance imaging (MRI) examinations at several stages in 40 patients with peripheral facial nerve palsy (Bell's palsy and Ramsay-Hunt syndrome). In 38 of the 40 patients, one and more enhanced region could be seen in certain portion of the facial nerve in the temporal bone on the affected side, whereas no enhanced regions were seen on the intact side. Correlations between the timing of the MRI examination and the location of the enhanced regions were analysed. In all 6 patients examined by MRI within 5 days after the onset of facial nerve palsy, enhanced regions were present in the meatal portion. In 3 of the 8 patients (38%) examined by MRI 6 to 10 days after the onset of facial palsy, enhanced areas were seen in both the meatal and labyrinthine portions. In 8 of the 9 patients (89%) tested 11 to 20 days after the onset of palsy, the vertical portion was enhanced. In the 12 patients examined by MRI 21 to 40 days after the onset of facial nerve palsy, the meatal portion was not enhanced while the labyrinthine portion, the horizontal portion and the vertical portion were enhanced in 5 (42%), 8 (67%) and 11 (92%), respectively. Enhancement in the vertical portion was observed in all 5 patients examined more than 41 days after the onset of facial palsy. These results suggest that the central portion of the facial nerve in the temporal bone tends to be enhanced in the early stage of facial nerve palsy, while the peripheral portion is enhanced in the late stage. These changes of Gd-DTPA enhanced regions in the facial nerve may suggest dromic degeneration of the facial nerve in peripheral facial nerve palsy. (author)

  1. Influence of gravity upon some facial signs.

    Science.gov (United States)

    Flament, F; Bazin, R; Piot, B

    2015-06-01

    Facial clinical signs and their integration are the basis of perception than others could have from ourselves, noticeably the age they imagine we are. Facial modifications in motion and their objective measurements before and after application of skin regimen are essential to go further in evaluation capacities to describe efficacy in facial dynamics. Quantification of facial modifications vis à vis gravity will allow us to answer about 'control' of facial shape in daily activities. Standardized photographs of the faces of 30 Caucasian female subjects of various ages (24-73 year) were successively taken at upright and supine positions within a short time interval. All these pictures were therefore reframed - any bias due to facial features was avoided when evaluating one single sign - for clinical quotation by trained experts of several facial signs regarding published standardized photographic scales. For all subjects, the supine position increased facial width but not height, giving a more fuller appearance to the face. More importantly, the supine position changed the severity of facial ageing features (e.g. wrinkles) compared to an upright position and whether these features were attenuated or exacerbated depended on their facial location. Supine station mostly modifies signs of the lower half of the face whereas those of the upper half appear unchanged or slightly accentuated. These changes appear much more marked in the older groups, where some deep labial folds almost vanish. These alterations decreased the perceived ages of the subjects by an average of 3.8 years. Although preliminary, this study suggests that a 90° rotation of the facial skin vis à vis gravity induces rapid rearrangements among which changes in tensional forces within and across the face, motility of interstitial free water among underlying skin tissue and/or alterations of facial Langer lines, likely play a significant role. © 2015 Society of Cosmetic Scientists and the Société Fran

  2. Regional Brain Responses Are Biased Toward Infant Facial Expressions Compared to Adult Facial Expressions in Nulliparous Women.

    Science.gov (United States)

    Li, Bingbing; Cheng, Gang; Zhang, Dajun; Wei, Dongtao; Qiao, Lei; Wang, Xiangpeng; Che, Xianwei

    2016-01-01

    Recent neuroimaging studies suggest that neutral infant faces compared to neutral adult faces elicit greater activity in brain areas associated with face processing, attention, empathic response, reward, and movement. However, whether infant facial expressions evoke larger brain responses than adult facial expressions remains unclear. Here, we performed event-related functional magnetic resonance imaging in nulliparous women while they were presented with images of matched unfamiliar infant and adult facial expressions (happy, neutral, and uncomfortable/sad) in a pseudo-randomized order. We found that the bilateral fusiform and right lingual gyrus were overall more activated during the presentation of infant facial expressions compared to adult facial expressions. Uncomfortable infant faces compared to sad adult faces evoked greater activation in the bilateral fusiform gyrus, precentral gyrus, postcentral gyrus, posterior cingulate cortex-thalamus, and precuneus. Neutral infant faces activated larger brain responses in the left fusiform gyrus compared to neutral adult faces. Happy infant faces compared to happy adult faces elicited larger responses in areas of the brain associated with emotion and reward processing using a more liberal threshold of p facial expressions compared to adult facial expressions among nulliparous women, and this bias may be modulated by individual differences in Interest-In-Infants and perspective taking ability.

  3. [Idiopathic facial paralysis in children].

    Science.gov (United States)

    Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

    2015-05-01

    Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Reconstruction of facial nerve injuries in children.

    Science.gov (United States)

    Fattah, Adel; Borschel, Gregory H; Zuker, Ron M

    2011-05-01

    Facial nerve trauma is uncommon in children, and many spontaneously recover some function; nonetheless, loss of facial nerve activity leads to functional impairment of ocular and oral sphincters and nasal orifice. In many cases, the impediment posed by facial asymmetry and reduced mimetic function more significantly affects the child's psychosocial interactions. As such, reconstruction of the facial nerve affords great benefits in quality of life. The therapeutic strategy is dependent on numerous factors, including the cause of facial nerve injury, the deficit, the prognosis for recovery, and the time elapsed since the injury. The options for treatment include a diverse range of surgical techniques including static lifts and slings, nerve repairs, nerve grafts and nerve transfers, regional, and microvascular free muscle transfer. We review our strategies for addressing facial nerve injuries in children.

  5. 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

    Directory of Open Access Journals (Sweden)

    ilknur Erol

    2015-03-01

    Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

  6. Gd-DTPA-enhanced MR imaging in facial nerve paralysis

    International Nuclear Information System (INIS)

    Tien, R.D.; Dillon, W.P.

    1989-01-01

    GD-DTPA-enhanced MR imaging was used to evaluate 11 patients with facial nerve paralysis (five acute idiopathic facial palsy (Bell palsy), three chronic recurrent facial palsy, one acute facial palsy after local radiation therapy, one chronic facial dyskinesia, and one facial neuroma). In eight of 11 patients, there was marked enhancement of the infratemporal facial nerve from the labyrinthine segment to the stylomastoid foramen. Two patients had additional contrast enhancement in the internal auditory canal segment. In one patient, enhancement persisted (but to a lesser degree) 8 weeks after symptoms had resolved. In one patient, no enhancement was seen 15 months after resolution of Bell palsy. The facial neuroma was seen as a focal nodular enhancement in the mastoid segment of the facial nerve

  7. Facial Animations: Future Research Directions & Challenges

    Science.gov (United States)

    Alkawaz, Mohammed Hazim; Mohamad, Dzulkifli; Rehman, Amjad; Basori, Ahmad Hoirul

    2014-06-01

    Nowadays, computer facial animation is used in a significant multitude fields that brought human and social to study the computer games, films and interactive multimedia reality growth. Authoring the computer facial animation, complex and subtle expressions are challenging and fraught with problems. As a result, the current most authored using universal computer animation techniques often limit the production quality and quantity of facial animation. With the supplement of computer power, facial appreciative, software sophistication and new face-centric methods emerging are immature in nature. Therefore, this paper concentrates to define and managerially categorize current and emerged surveyed facial animation experts to define the recent state of the field, observed bottlenecks and developing techniques. This paper further presents a real-time simulation model of human worry and howling with detail discussion about their astonish, sorrow, annoyance and panic perception.

  8. Caring for children with mental retardation: The experiences of ...

    African Journals Online (AJOL)

    Caring for children with mental retardation at home requires great patience and understanding. Mothers often experience difficulties adjusting to the fact that their children are mentally retarded and that it cannot be cured. This study investigated the experiences of mothers caring for children with mental retardation.

  9. Ultraestrutura do nervo facial intratemporal em pacientes com paralisia facial idiopática: estudo de evidências de infecção viral Intratemporal facial nerve ultrastructure in patients with idiopathic facial paralysis: viral infection evidence study

    Directory of Open Access Journals (Sweden)

    Rosangela Aló Maluza Florez

    2010-10-01

    Full Text Available A etiologia da paralisia facial periférica idiopática (PFPI ainda é uma incógnita, no entanto, alguns autores aventam a possibilidade de ser uma infecção viral. OBJETIVO: Analisar a ultraestrutura do nervo facial procurando evidências virais que possam nos fornecer dados etiológicos. MATERIAL E MÉTODO: Foram estudados 20 pacientes com PFP, com graus de moderado a severo, de ambos os sexos, entre 18-60 anos, provenientes de Ambulatório de Distúrbios do Nervo Facial. Os pacientes foram divididos em dois grupos: Estudo, onze pacientes com PFPI e Controle, nove pacientes com Paralisia Facial Periférica Traumática ou Tumoral. Foram estudados fragmentos de bainha do nervo facial ou fragmentos de seus cotos, que durante a cirurgia de reparação do nervo facial, seriam desprezados ou encaminhados para estudo anatomopatológico. O tecido foi fixado em glutaraldeído 2% e analisado em Microscopia Eletrônica de Transmissão. RESULTADO: Observamos no grupo estudo atividade celular intensa de reparação com aumento de fibras colágenas, fibroblastos com organelas desenvolvidas, isentos de partículas virais. No grupo controle esta atividade de reparação não foi evidente, mas também não foram observadas partículas virais. CONCLUSÃO: Não foram encontradas partículas virais, no entanto, houve evidências de intensa atividade de reparação ou infecção viral.The etiology of idiopathic peripheral facial palsy (IPFP is still uncertain; however, some authors suggest the possibility of a viral infection. AIM: to analyze the ultrastructure of the facial nerve seeking viral evidences that might provide etiological data. MATERIAL AND METHODS: We studied 20 patients with peripheral facial palsy (PFP, with moderate to severe FP, of both genders, between 18-60 years of age, from the Clinic of Facial Nerve Disorders. The patients were broken down into two groups - Study: eleven patients with IPFP and Control: nine patients with trauma or tumor

  10. Caracterização funcional da mímica facial na paralisia facial em trauma de face: relato de caso clínico Functional characterization of facial mimicry in facial paralysis of face trauma: a clinical case report

    Directory of Open Access Journals (Sweden)

    Leila Bonfim de Jesus

    2012-10-01

    Full Text Available TEMA: mímica facial na paralisia facial ocasionada por trauma de face. PROCEDIMENTOS: estudo de caso da mímica facial de um paciente com paralisia facial periférica no lado direito com sequelas decorrente de trauma por projétil de arma de fogo, adulto jovem do sexo masculino, comerciante autônomo. Foi realizada análise documental e fotográfica por meio de anamnese, avaliação e escala de graduação de da paralisia facial House e Brackmann. RESULTADOS: na avaliação da paralisia facial em repouso encontrou-se no lado direito (lesado: desvio de comissura labial, desvio de filtro, narina mais elevada e olho mais aberto. Em movimento, ainda no lado da lesão, observou-se: abolição de rugas frontais, incompetência no fechamento ocular natural e fechamento completo ao forçar, ausência de elevação de narina, rima naso-labial mais pronunciada, protrusão labial desviada para este lado, pouca retração labial, eversão de lábio inferior, comissura labial elevada, desvio de filtro, reduzida capacidade de inflar bochechas. O paciente apresentou sincinesia de olho/lábios e contratura com hipertonia de frontal, prócero, levantador da asa do nariz, risório, zigomático maior, zigomático menor, levantador do lábio superior, depressor do lábio inferior, mentual no lado da lesão e a fratura ocorreu em côndilo direito e o paciente referiu dor orofacial ao dormir e ao mastigar no lado comprometido. CONCLUSÃO: a lesão do nervo facial associada ao trauma de face provocou a alteração da mímica facial no lado direito o que gerou desfiguramento e distúrbios da mastigação.BACKGROUND: facial mimicry in the paralysis of the face that occurs because of a trauma in the face. PROCEDURES: case study of facial mimicry of a patient with peripheral facial paralysis, on the right side of the face, with sequels that happened because of a trauma because of a fire gun projectile; a young man, a self-employed trader. A documental and photographical

  11. The identification of unfolding facial expressions.

    Science.gov (United States)

    Fiorentini, Chiara; Schmidt, Susanna; Viviani, Paolo

    2012-01-01

    We asked whether the identification of emotional facial expressions (FEs) involves the simultaneous perception of the facial configuration or the detection of emotion-specific diagnostic cues. We recorded at high speed (500 frames s-1) the unfolding of the FE in five actors, each expressing six emotions (anger, surprise, happiness, disgust, fear, sadness). Recordings were coded every 10 frames (20 ms of real time) with the Facial Action Coding System (FACS, Ekman et al 2002, Salt Lake City, UT: Research Nexus eBook) to identify the facial actions contributing to each expression, and their intensity changes over time. Recordings were shown in slow motion (1/20 of recording speed) to one hundred observers in a forced-choice identification task. Participants were asked to identify the emotion during the presentation as soon as they felt confident to do so. Responses were recorded along with the associated response times (RTs). The RT probability density functions for both correct and incorrect responses were correlated with the facial activity during the presentation. There were systematic correlations between facial activities, response probabilities, and RT peaks, and significant differences in RT distributions for correct and incorrect answers. The results show that a reliable response is possible long before the full FE configuration is reached. This suggests that identification is reached by integrating in time individual diagnostic facial actions, and does not require perceiving the full apex configuration.

  12. Evolution of facial color pattern complexity in lemurs.

    Science.gov (United States)

    Rakotonirina, Hanitriniaina; Kappeler, Peter M; Fichtel, Claudia

    2017-11-09

    Interspecific variation in facial color patterns across New and Old World primates has been linked to species recognition and group size. Because group size has opposite effects on interspecific variation in facial color patterns in these two radiations, a study of the third large primate radiation may shed light on convergences and divergences in this context. We therefore compiled published social and ecological data and analyzed facial photographs of 65 lemur species to categorize variation in hair length, hair and skin coloration as well as color brightness. Phylogenetically controlled analyses revealed that group size and the number of sympatric species did not influence the evolution of facial color complexity in lemurs. Climatic factors, however, influenced facial color complexity, pigmentation and hair length in a few facial regions. Hair length in two facial regions was also correlated with group size and may facilitate individual recognition. Since phylogenetic signals were moderate to high for most models, genetic drift may have also played a role in the evolution of facial color patterns of lemurs. In conclusion, social factors seem to have played only a subordinate role in the evolution of facial color complexity in lemurs, and, more generally, group size appears to have no systematic functional effect on facial color complexity across all primates.

  13. Halogenated flame retardants in the Great Lakes environment.

    Science.gov (United States)

    Venier, Marta; Salamova, Amina; Hites, Ronald A

    2015-07-21

    Flame retardants are widely used industrial chemicals that are added to polymers, such as polyurethane foam, to prevent them from rapidly burning if exposed to a small flame or a smoldering cigarette. Flame retardants, especially brominated flame retardants, are added to many polymeric products at percent levels and are present in most upholstered furniture and mattresses. Most of these chemicals are so-called "additive" flame retardants and are not chemically bound to the polymer; thus, they migrate from the polymeric materials into the environment and into people. As a result, some of these chemicals have become widespread pollutants, which is a concern given their possible adverse health effects. Perhaps because of their environmental ubiquity, the most heavily used group of brominated flame retardants, the polybrominated diphenyl ethers (PBDEs), was withdrawn from production and use during the 2004-2013 period. This led to an increasing demand for other flame retardants, including other brominated aromatics and organophosphate esters. Although little is known about the use or production volumes of these newer flame retardants, it is evident that some of these chemicals are also becoming pervasive in the environment and in humans. In this Account, we describe our research on the occurrence of halogenated and organophosphate flame retardants in the environment, with a specific focus on the Great Lakes region. This Account starts with a short introduction to the first generation of brominated flame retardants, the polybrominated biphenyls, and then presents our measurements of their replacement, the PBDEs. We summarize our data on PBDE levels in babies, bald eagles, and in air. Once these compounds came off the market, we began to measure several of the newer flame retardants in air collected on the shores of the Great Lakes once every 12 days. These new measurements focus on a tetrabrominated benzoate, a tetrabrominated phthalate, a hexabrominated diphenoxyethane

  14. Congenital aplasia of the semicircular canals.

    Science.gov (United States)

    Satar, Bulent; Mukherji, Suresh K; Telian, Steven A

    2003-05-01

    To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the potential embryopathogenesis of this anomaly. A retrospective case review consisting of cases of sensorineural hearing loss with radiographic evidence demonstrating agenesis of the semicircular canals associated with a cochlea that was either morphologically normal or sufficiently well developed to accommodate the full insertion of a cochlear implant electrode. Cases were identified by computerized tomography findings that identified the anomaly under study. Departments of otolaryngology and radiology in a tertiary referral center, with a large cochlear implant program serving over 800 patients, more than half of whom are children. Fifteen patients with the anomaly under study were identified. Each patient underwent a complete otologic examination, audiometric studies, and high resolution computerized tomography of the temporal bone in axial and coronal planes. The bony morphology of the cochlea, round and oval windows, vestibule, semicircular canals, and vestibular aqueduct, and the course of the facial nerve were examined. Auditory findings and otologic treatment are presented. Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes. Although the cochlea was present in all cases, the cochlear morphology was usually abnormal in the CHARGE association patients. Of the 20 ears in the CHARGE subjects, only 3 ears (15%) were seen to have completely normal development of the cochlea in both the basal and upper turns. The others

  15. Control de accesos mediante reconocimiento facial

    OpenAIRE

    Rodríguez Rodríguez, Bruno

    2011-01-01

    En esta memoria expone el trabajo que se ha llevado a cabo para intentar crear un sistema de reconocimiento facial. This paper outlines the work carried out in the attempt of creating a facial recognition system. En aquesta memòria exposa el treball que s'ha dut a terme en l'intent de crear un sistema de reconeixement facial.

  16. Dermal fillers for facial soft tissue augmentation.

    Science.gov (United States)

    Dastoor, Sarosh F; Misch, Carl E; Wang, Hom-Lay

    2007-01-01

    Nowadays, patients are demanding not only enhancement to their dental (micro) esthetics, but also their overall facial (macro) esthetics. Soft tissue augmentation via dermal filling agents may be used to correct facial defects such as wrinkles caused by age, gravity, and trauma; thin lips; asymmetrical facial appearances; buccal fold depressions; and others. This article will review the pathogenesis of facial wrinkles, history, techniques, materials, complications, and clinical controversies regarding dermal fillers for soft tissue augmentation.

  17. Sustained Attention of Adults with Mental Retardation.

    Science.gov (United States)

    Tomporowski, Phillip D.; Allison, Pamela

    1988-01-01

    The sustained attention of 23 young adults with mild mental retardation and nonretarded subjects was assessed. Findings suggested that the sustained attention of the retarded differs from that of the nonretarded on those vigilance tasks that place demands on memory abilities. (Author/DB)

  18. A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

    Directory of Open Access Journals (Sweden)

    Fatih Bayrakli

    2014-01-01

    Full Text Available Background: Cerebellar hypoplasia (CH is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype.

  19. Nablus mask-like facial syndrome

    DEFF Research Database (Denmark)

    Allanson, Judith; Smith, Amanda; Hare, Heather

    2012-01-01

    Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few...

  20. Face Processing in Children with Autism Spectrum Disorder: Independent or Interactive Processing of Facial Identity and Facial Expression?

    Science.gov (United States)

    Krebs, Julia F.; Biswas, Ajanta; Pascalis, Olivier; Kamp-Becker, Inge; Remschmidt, Helmuth; Schwarzer, Gudrun

    2011-01-01

    The current study investigated if deficits in processing emotional expression affect facial identity processing and vice versa in children with autism spectrum disorder. Children with autism and IQ and age matched typically developing children classified faces either by emotional expression, thereby ignoring facial identity or by facial identity…

  1. Fractional CO2 laser resurfacing of photoaged facial and non-facial skin: histologic and clinical results and side effects.

    Science.gov (United States)

    Sasaki, Gordon H; Travis, Heather M; Tucker, Barbara

    2009-12-01

    CO(2) fractional ablation offers the potential for facial and non-facial skin resurfacing with minimal downtime and rapid recovery. The purpose of this study was (i) to document the average depths and density of adnexal structures in non-lasered facial and non-facial body skin; (ii) to determine injury in ex vivo human thigh skin with varying fractional laser modes; and (iii) to evaluate the clinical safety and efficacy of treatments. Histologies were obtained from non-lasered facial and non-facial skin from 121 patients and from 14 samples of excised lasered thigh skin. Seventy-one patients were evaluated after varying energy (mJ) and density settings by superficial ablation, deeper penetration, and combined treatment. Skin thickness and adnexal density in non-lasered skin exhibited variable ranges: epidermis (47-105 mum); papillary dermis (61-105 mum); reticular dermis (983-1986 mum); hair follicles (2-14/ HPF); sebaceous glands (2-23/HPF); sweat glands (2-7/HPF). Histological studies of samples from human thigh skin demonstrated that increased fluencies in the superficial, deep and combined mode resulted in predictable deeper levels of ablations and thermal injury. An increase in density settings results in total ablation of the epidermis. Clinical improvement of rhytids and pigmentations in facial and non-facial skin was proportional to increasing energy and density settings. Patient assessments and clinical gradings by the Wilcoxon's test of outcomes correlated with more aggressive settings. Prior knowledge of normal skin depths and adnexal densities, as well as ex vivo skin laser-injury profiles at varying fluencies and densities, improve the safety and efficiency of fractional CO(2) for photorejuvenation of facial and non-facial skin.

  2. Fire-Retardant, Self-Extinguishing Inorganic/Polymer Composite Memory Foams.

    Science.gov (United States)

    Chatterjee, Soumyajyoti; Shanmuganathan, Kadhiravan; Kumaraswamy, Guruswamy

    2017-12-27

    Polymeric foams used in furniture and automotive and aircraft seating applications rely on the incorporation of environmentally hazardous fire-retardant additives to meet fire safety norms. This has occasioned significant interest in novel approaches to the elimination of fire-retardant additives. Foams based on polymer nanocomposites or based on fire-retardant coatings show compromised mechanical performance and require additional processing steps. Here, we demonstrate a one-step preparation of a fire-retardant ice-templated inorganic/polymer hybrid that does not incorporate fire-retardant additives. The hybrid foams exhibit excellent mechanical properties. They are elastic to large compressional strain, despite the high inorganic content. They also exhibit tunable mechanical recovery, including viscoelastic "memory". These hybrid foams are prepared using ice-templating that relies on a green solvent, water, as a porogen. Because these foams are predominantly comprised of inorganic components, they exhibit exceptional fire retardance in torch burn tests and are self-extinguishing. After being subjected to a flame, the foam retains its porous structure and does not drip or collapse. In micro-combustion calorimetry, the hybrid foams show a peak heat release rate that is only 25% that of a commercial fire-retardant polyurethanes. Finally, we demonstrate that we can use ice-templating to prepare hybrid foams with different inorganic colloids, including cheap commercial materials. We also demonstrate that ice-templating is amenable to scale up, without loss of mechanical performance or fire-retardant properties.

  3. Sympathicotomy for isolated facial blushing

    DEFF Research Database (Denmark)

    Licht, Peter Bjørn; Pilegaard, Hans K; Ladegaard, Lars

    2012-01-01

    Background. Facial blushing is one of the most peculiar of human expressions. The pathophysiology is unclear, and the prevalence is unknown. Thoracoscopic sympathectomy may cure the symptom and is increasingly used in patients with isolated facial blushing. The evidence base for the optimal level...... of targeting the sympathetic chain is limited to retrospective case studies. We present a randomized clinical trial. Methods. 100 patients were randomized (web-based, single-blinded) to rib-oriented (R2 or R2-R3) sympathicotomy for isolated facial blushing at two university hospitals during a 6-year period...... between R2 and R2-R3 sympathicotomy for isolated facial blushing. Both were effective, and QOL increased significantly. Despite very frequent side effects, the vast majority of patients were satisfied. Surprisingly, many patients experienced mild recurrent symptoms within the first year; this should...

  4. Facial nerve paralysis in children

    Science.gov (United States)

    Ciorba, Andrea; Corazzi, Virginia; Conz, Veronica; Bianchini, Chiara; Aimoni, Claudia

    2015-01-01

    Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology. PMID:26677445

  5. Restoring facial shape in face lifting: the role of skeletal support in facial analysis and midface soft-tissue repositioning.

    Science.gov (United States)

    Stuzin, James M

    2007-01-01

    Aesthetic analysis in facial rejuvenation has traditionally been subordinate to technical solutions. While concerns regarding correction of facial laxity, a reduction in the depth of the nasolabial fold, and improvement of both the jowl and the jawline are worthy goals in rhytidectomy, the aesthetic concept of restoring facial shape to a more youthful appearance is equally important. Restoring facial shape in face lifting requires an understanding of how the face ages and then the formulation of a treatment plan that is individualized for the patient. Re-establishment of facial contour is significantly influenced by the re-elevation of descended facial fat through superficial musculoaponeurotic system manipulation; it can be approached through a variety of technical solutions. Underlying skeletal support affects not only the appearance of the face in youth but also how the face ages and influences the operative plan in terms of the requirements for fat repositioning. Formulating a treatment plan that is patient specific and based on the artistic goals as influenced by skeletal support is the key element for consistency in restoring facial shape in face lifting.

  6. Using EVT for Geological Anomaly Design and Its Application in Identifying Anomalies in Mining Areas

    Directory of Open Access Journals (Sweden)

    Feilong Qin

    2016-01-01

    Full Text Available A geological anomaly is the basis of mineral deposit prediction. Through the study of the knowledge and characteristics of geological anomalies, the category of extreme value theory (EVT to which a geological anomaly belongs can be determined. Associating the principle of the EVT and ensuring the methods of the shape parameter and scale parameter for the generalized Pareto distribution (GPD, the methods to select the threshold of the GPD can be studied. This paper designs a new algorithm called the EVT model of geological anomaly. These study data on Cu and Au originate from 26 exploration lines of the Jiguanzui Cu-Au mining area in Hubei, China. The proposed EVT model of the geological anomaly is applied to identify anomalies in the Jiguanzui Cu-Au mining area. The results show that the model can effectively identify the geological anomaly region of Cu and Au. The anomaly region of Cu and Au is consistent with the range of ore bodies of actual engineering exploration. Therefore, the EVT model of the geological anomaly can effectively identify anomalies, and it has a high indicating function with respect to ore prospecting.

  7. Facial recognition in education system

    Science.gov (United States)

    Krithika, L. B.; Venkatesh, K.; Rathore, S.; Kumar, M. Harish

    2017-11-01

    Human beings exploit emotions comprehensively for conveying messages and their resolution. Emotion detection and face recognition can provide an interface between the individuals and technologies. The most successful applications of recognition analysis are recognition of faces. Many different techniques have been used to recognize the facial expressions and emotion detection handle varying poses. In this paper, we approach an efficient method to recognize the facial expressions to track face points and distances. This can automatically identify observer face movements and face expression in image. This can capture different aspects of emotion and facial expressions.

  8. Three-dimensional cranio-facial computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Pozzi Muccelli, R; Stagul, F; Pozzi Muccelli, F; Zuiani, C; Smathers, R

    1986-01-01

    Computed tomography allows today to reconstruct three-dimensional (eD) images fram axial scans. The authors report their experience in cranio-facial pathology achived in two Departments of Radiology (University of Trieste, Italy and University of Standford, California). 3D images have been realized using two different softwares, one of which allows to reconstruct both soft tissue and bone structures. The application in maxillo-facial traumas, cranio-facial malformations and head tumours are disscussed. 3D images turned out to be very useful for the optimal visualization and for the spatial demostration of the lesion and have potential applications in cranio-facial surgery and radiotherapy.

  9. Three-dimensional cranio-facial computed tomography

    International Nuclear Information System (INIS)

    Pozzi Muccelli, R.; Stagul, F.; Pozzi Muccelli, F.; Zuiani, C.; Smathers, R.

    1986-01-01

    Computed tomography allows today to reconstruct three-dimensional (eD) images fram axial scans. The authors report their experience in cranio-facial pathology achived in two Departments of Radiology (University of Trieste, Italy and University of Standford, California). 3D images have been realized using two different softwares, one of which allows to reconstruct both soft tissue and bone structures. The application in maxillo-facial traumas, cranio-facial malformations and head tumours are disscussed. 3D images turned out to be very useful for the optimal visualization and for the spatial demostration of the lesion and have potential applications in cranio-facial surgery and radiotherapy

  10. Diagnosis and surgical outcomes of intraparotid facial nerve schwannoma showing normal facial nerve function.

    Science.gov (United States)

    Lee, D W; Byeon, H K; Chung, H P; Choi, E C; Kim, S-H; Park, Y M

    2013-07-01

    The findings of intraparotid facial nerve schwannoma (FNS) using preoperative diagnostic tools, including ultrasonography (US)-guided fine needle aspiration biopsy, computed tomography (CT) scan, and magnetic resonance imaging (MRI), were analyzed to determine if there are any useful findings that might suggest the presence of a lesion. Treatment guidelines are suggested. The medical records of 15 patients who were diagnosed with an intraparotid FNS were retrospectively analyzed. US and CT scans provide clinicians with only limited information; gadolinium enhanced T1-weighted images from MRI provide more specific findings. Tumors could be removed successfully with surgical exploration, preserving facial nerve function at the same time. Gadolinium-enhanced T1-weighted MRI showed more characteristic findings for the diagnosis of intraparotid FNS. Intraparotid FNS without facial palsy can be diagnosed with MRI preoperatively, and surgical exploration is a suitable treatment modality which can remove the tumor and preserve facial nerve function. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

  11. Agency and facial emotion judgment in context.

    Science.gov (United States)

    Ito, Kenichi; Masuda, Takahiko; Li, Liman Man Wai

    2013-06-01

    Past research showed that East Asians' belief in holism was expressed as their tendencies to include background facial emotions into the evaluation of target faces more than North Americans. However, this pattern can be interpreted as North Americans' tendency to downplay background facial emotions due to their conceptualization of facial emotion as volitional expression of internal states. Examining this alternative explanation, we investigated whether different types of contextual information produce varying degrees of effect on one's face evaluation across cultures. In three studies, European Canadians and East Asians rated the intensity of target facial emotions surrounded with either affectively salient landscape sceneries or background facial emotions. The results showed that, although affectively salient landscapes influenced the judgment of both cultural groups, only European Canadians downplayed the background facial emotions. The role of agency as differently conceptualized across cultures and multilayered systems of cultural meanings are discussed.

  12. [Multidisciplinary approach of facial injuries

    NARCIS (Netherlands)

    Dubois, L.; Schreurs, R.; Lapid, O.; Saeed, P.; Adriaensen, G.F.; Hoefnagels, F.M.; Jong, V.M. de

    2017-01-01

    BACKGROUND: Approximately one quarter of polytrauma patients has facial injuries, which usually lead to loss of form and function. Several specialties are involved in the acute and reconstructive phases of facial injuries, such as oral and maxillofacial surgery, otorhinolaryngology, plastic surgery,

  13. Marker optimization for facial motion acquisition and deformation.

    Science.gov (United States)

    Le, Binh H; Zhu, Mingyang; Deng, Zhigang

    2013-11-01

    A long-standing problem in marker-based facial motion capture is what are the optimal facial mocap marker layouts. Despite its wide range of potential applications, this problem has not yet been systematically explored to date. This paper describes an approach to compute optimized marker layouts for facial motion acquisition as optimization of characteristic control points from a set of high-resolution, ground-truth facial mesh sequences. Specifically, the thin-shell linear deformation model is imposed onto the example pose reconstruction process via optional hard constraints such as symmetry and multiresolution constraints. Through our experiments and comparisons, we validate the effectiveness, robustness, and accuracy of our approach. Besides guiding minimal yet effective placement of facial mocap markers, we also describe and demonstrate its two selected applications: marker-based facial mesh skinning and multiresolution facial performance capture.

  14. Perceptual-Motor Attributes of Mentally Retarded Youth.

    Science.gov (United States)

    Cratty, Bryant J.

    To evaluate six perceptual-motor attributes of trainable and educable mentally retarded children, a battery of tests was constructed which included body perception, gross agility, balance, locomotor ability, throwing, and tracking; 83 retarded subjects provided reliability data, and their scores, with those of 120 additional subjects, provided…

  15. Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

    Science.gov (United States)

    Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik

    2013-05-01

    The transcription factor SOX3 is widely expressed in early vertebrate brain development. In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. Sox3 knock-out mice show a variable phenotype including structural and functional anomalies affecting the branchial arches and midline cerebral structures such as the optic chiasm and the hypothalamo-pituitary axis. SOX3 is claimed to be required in normal brain development and function in mice and humans, as well as in pituitary and craniofacial development. We report on an 8-year-old boy with a 2.1 Mb deletion in Xq27.1q27.2, which was found to be inherited from his healthy mother. To our knowledge, this is the smallest deletion including the entire SOX3 gene in a male reported to date. He is mildly intellectually disabled with language delay, dysarthria, behavior problems, minor facial anomalies, and hyperphagia. Hormone levels including growth, adrenocorticotropic and thyroid stimulating hormones are normal. Magnetic resonance imaging (MRI) at age 6 years showed no obvious brain anomalies. Genetic redundancy between the three members of the B1 subfamily of SOX proteins during early human brain development likely explains the apparently normal development of brain structures in our patient who is nullisomic for SOX3. Copyright © 2012 Wiley Periodicals, Inc.

  16. Computer facial animation

    CERN Document Server

    Parke, Frederic I

    2008-01-01

    This comprehensive work provides the fundamentals of computer facial animation and brings into sharper focus techniques that are becoming mainstream in the industry. Over the past decade, since the publication of the first edition, there have been significant developments by academic research groups and in the film and games industries leading to the development of morphable face models, performance driven animation, as well as increasingly detailed lip-synchronization and hair modeling techniques. These topics are described in the context of existing facial animation principles. The second ed

  17. Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

    Science.gov (United States)

    Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

    2005-02-01

    To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

  18. Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.

    Science.gov (United States)

    Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

    2011-06-01

    The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

  19. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    Science.gov (United States)

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

  20. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  1. Measuring facial expression of emotion.

    Science.gov (United States)

    Wolf, Karsten

    2015-12-01

    Research into emotions has increased in recent decades, especially on the subject of recognition of emotions. However, studies of the facial expressions of emotion were compromised by technical problems with visible video analysis and electromyography in experimental settings. These have only recently been overcome. There have been new developments in the field of automated computerized facial recognition; allowing real-time identification of facial expression in social environments. This review addresses three approaches to measuring facial expression of emotion and describes their specific contributions to understanding emotion in the healthy population and in persons with mental illness. Despite recent progress, studies on human emotions have been hindered by the lack of consensus on an emotion theory suited to examining the dynamic aspects of emotion and its expression. Studying expression of emotion in patients with mental health conditions for diagnostic and therapeutic purposes will profit from theoretical and methodological progress.

  2. Radiologic analysis of congenital limb anomalies

    International Nuclear Information System (INIS)

    Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

    1994-01-01

    Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

  3. Facial trauma

    Science.gov (United States)

    Maxillofacial injury; Midface trauma; Facial injury; LeFort injuries ... Hockberger RS, Walls RM, eds. Rosen's Emergency Medicine: Concepts and Clinical Practice . 8th ed. Philadelphia, PA: Elsevier ...

  4. Dental Anomalies: An Update

    Directory of Open Access Journals (Sweden)

    Fatemeh Jahanimoghadam

    2016-01-01

    Full Text Available Dental anomalies are usual congenital malformation that can happen either as isolated findings or as a part of a syndrome. Developmental anomalies influencing the morphology exists in both deciduous and permanent dentition and shows different forms such as gemination, fusion, concrescence, dilaceration, dens evaginatus (DE, enamel pearls, taurodontism or peg-shaped laterals. All These anomalies have clinical significance concerning aesthetics, malocclusion and more necessary preparing of the development of dental decays and oral diseases. Through a search in PubMed, Google, Scopus and Medline, a total of eighty original research papers during 1928-2016 were found with the keywords such as dental anomaly, syndrome, tooth and hypodontia. One hundred review titles were identified, eighty reviews were retrieved that were finally included as being relevant and of sufficient quality. In this review, dental anomalies including gemination, fusion, concrescence, dilaceration, dens invaginatus, DE, taurodontism, enamel pearls, fluorosis, peg-shaped laterals, dentinal dysplasia, regional odontodysplasia and hypodontia are discussed. Diagnosing dental abnormality needs a thorough evaluation of the patient, involving a medical, dental, familial and clinical history. Clinical examination and radiographic evaluation and in some of the cases, specific laboratory tests are also needed. Developmental dental anomalies require careful examination and treatment planning. Where one anomaly is present, clinicians should suspect that other anomalies may also be present. Moreover, careful clinical and radiographical examination is required. Furthermore, more complex cases need multidisciplinary planning and treatment.

  5. Facial Emotions Recognition using Gabor Transform and Facial Animation Parameters with Neural Networks

    Science.gov (United States)

    Harit, Aditya; Joshi, J. C., Col; Gupta, K. K.

    2018-03-01

    The paper proposed an automatic facial emotion recognition algorithm which comprises of two main components: feature extraction and expression recognition. The algorithm uses a Gabor filter bank on fiducial points to find the facial expression features. The resulting magnitudes of Gabor transforms, along with 14 chosen FAPs (Facial Animation Parameters), compose the feature space. There are two stages: the training phase and the recognition phase. Firstly, for the present 6 different emotions, the system classifies all training expressions in 6 different classes (one for each emotion) in the training stage. In the recognition phase, it recognizes the emotion by applying the Gabor bank to a face image, then finds the fiducial points, and then feeds it to the trained neural architecture.

  6. A study on facial expressions recognition

    Science.gov (United States)

    Xu, Jingjing

    2017-09-01

    In terms of communication, postures and facial expressions of such feelings like happiness, anger and sadness play important roles in conveying information. With the development of the technology, recently a number of algorithms dealing with face alignment, face landmark detection, classification, facial landmark localization and pose estimation have been put forward. However, there are a lot of challenges and problems need to be fixed. In this paper, a few technologies have been concluded and analyzed, and they all relate to handling facial expressions recognition and poses like pose-indexed based multi-view method for face alignment, robust facial landmark detection under significant head pose and occlusion, partitioning the input domain for classification, robust statistics face formalization.

  7. Crack retardation by load reduction during fatigue crack propagation

    International Nuclear Information System (INIS)

    Kim, Hyun Soo; Nam, Ki Woo; Ahn, Seok Hwan; Do, Jae Yoon

    2003-01-01

    Fracture life and crack retardation behavior were examined experimentally using CT specimens of aluminum alloy 5083. Crack retardation life and fracture life were a wide difference between 0.8 and 0.6 in proportion to ratio of load reduction. The wheeler model retardation parameter was used successfully to predict crack growth behavior. By using a crack propagation rule, prediction of fracture life can be evaluated quantitatively. A statistical approach based on Weibull distribution was applied to the test data to evaluate the dispersion in the retardation life and fracture life by the change of load reduction

  8. Desarrollo de un sistema de reconocimiento facial

    OpenAIRE

    Vivas Imparato, Abdón Alejandro

    2014-01-01

    El objetivo principal alrededor del cual se desenvuelve este proyecto es el desarrollo de un sistema de reconocimiento facial. Entre sus objetivos específicos se encuentran: realizar una primera aproximación sobre las técnicas de reconocimiento facial existentes en la actualidad, elegir una aplicación donde pueda ser útil el reconocimiento facial, diseñar y desarrollar un programa en MATLAB que lleve a cabo la función de reconocimiento facial, y evaluar el funcionamiento del sistema desarroll...

  9. MR imaging of the intraparotid facial nerve

    International Nuclear Information System (INIS)

    Kurihara, Hiroaki; Iwasawa, Tae; Yoshida, Tetsuo; Furukawa, Masaki

    1996-01-01

    Using a 1.5T MR imaging system, seven normal volunteers and 6 patients with parotid tumors were studied and their intraparotid facial nerves were directly imaged. The findings were evaluated by T1-weighted axial, sagittal and oblique images. The facial nerve appeared to be relatively hypointensive within the highsignal parotid parenchyma, and the main trunks of the facial nerves were observed directly in all the cases examined. Their main divisions were detected in all the volunteers and 5 of 6 patients were imaged obliquely. The facial nerves run in various fashions and so the oblique scan planes were determined individually to detect this running figure directly. To verify our observations, surgical findings of the facial nerve were compared with the MR images or results. (author)

  10. EquiFACS: The Equine Facial Action Coding System.

    Directory of Open Access Journals (Sweden)

    Jen Wathan

    Full Text Available Although previous studies of horses have investigated their facial expressions in specific contexts, e.g. pain, until now there has been no methodology available that documents all the possible facial movements of the horse and provides a way to record all potential facial configurations. This is essential for an objective description of horse facial expressions across a range of contexts that reflect different emotional states. Facial Action Coding Systems (FACS provide a systematic methodology of identifying and coding facial expressions on the basis of underlying facial musculature and muscle movement. FACS are anatomically based and document all possible facial movements rather than a configuration of movements associated with a particular situation. Consequently, FACS can be applied as a tool for a wide range of research questions. We developed FACS for the domestic horse (Equus caballus through anatomical investigation of the underlying musculature and subsequent analysis of naturally occurring behaviour captured on high quality video. Discrete facial movements were identified and described in terms of the underlying muscle contractions, in correspondence with previous FACS systems. The reliability of others to be able to learn this system (EquiFACS and consistently code behavioural sequences was high--and this included people with no previous experience of horses. A wide range of facial movements were identified, including many that are also seen in primates and other domestic animals (dogs and cats. EquiFACS provides a method that can now be used to document the facial movements associated with different social contexts and thus to address questions relevant to understanding social cognition and comparative psychology, as well as informing current veterinary and animal welfare practices.

  11. Photometric analysis applied in determining facial type

    Directory of Open Access Journals (Sweden)

    Luciana Flaquer Martins

    2012-10-01

    Full Text Available INTRODUCTION: In orthodontics, determining the facial type is a key element in the prescription of a correct diagnosis. In the early days of our specialty, observation and measurement of craniofacial structures were done directly on the face, in photographs or plaster casts. With the development of radiographic methods, cephalometric analysis replaced the direct facial analysis. Seeking to validate the analysis of facial soft tissues, this work compares two different methods used to determining the facial types, the anthropometric and the cephalometric methods. METHODS: The sample consisted of sixty-four Brazilian individuals, adults, Caucasian, of both genders, who agreed to participate in this research. All individuals had lateral cephalograms and facial frontal photographs. The facial types were determined by the Vert Index (cephalometric and the Facial Index (photographs. RESULTS: The agreement analysis (Kappa, made for both types of analysis, found an agreement of 76.5%. CONCLUSIONS: We concluded that the Facial Index can be used as an adjunct to orthodontic diagnosis, or as an alternative method for pre-selection of a sample, avoiding that research subjects have to undergo unnecessary tests.INTRODUÇÃO: em Ortodontia, a determinação do tipo facial é um elemento-chave na prescrição de um diagnóstico correto. Nos primórdios de nossa especialidade, a observação e a medição das estruturas craniofaciais eram feitas diretamente na face, em fotografias ou em modelos de gesso. Com o desenvolvimento dos métodos radiográficos, a análise cefalométrica foi substituindo a análise facial direta. Visando legitimar o estudo dos tecidos moles faciais, esse trabalho comparou a determinação do tipo facial pelos métodos antropométrico e cefalométrico. MÉTODOS: a amostra constou de sessenta e quatro indivíduos brasileiros, adultos, leucodermas, de ambos os sexos, que aceitaram participar da pesquisa. De todos os indivíduos da amostra

  12. Peripheral facial weakness (Bell's palsy).

    Science.gov (United States)

    Basić-Kes, Vanja; Dobrota, Vesna Dermanović; Cesarik, Marijan; Matovina, Lucija Zadro; Madzar, Zrinko; Zavoreo, Iris; Demarin, Vida

    2013-06-01

    Peripheral facial weakness is a facial nerve damage that results in muscle weakness on one side of the face. It may be idiopathic (Bell's palsy) or may have a detectable cause. Almost 80% of peripheral facial weakness cases are primary and the rest of them are secondary. The most frequent causes of secondary peripheral facial weakness are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immune disorders, drugs, degenerative diseases of the central nervous system, etc. The diagnosis relies upon the presence of typical signs and symptoms, blood chemistry tests, cerebrospinal fluid investigations, nerve conduction studies and neuroimaging methods (cerebral MRI, x-ray of the skull and mastoid). Treatment of secondary peripheral facial weakness is based on therapy for the underlying disorder, unlike the treatment of Bell's palsy that is controversial due to the lack of large, randomized, controlled, prospective studies. There are some indications that steroids or antiviral agents are beneficial but there are also studies that show no beneficial effect. Additional treatments include eye protection, physiotherapy, acupuncture, botulinum toxin, or surgery. Bell's palsy has a benign prognosis with complete recovery in about 80% of patients, 15% experience some mode of permanent nerve damage and severe consequences remain in 5% of patients.

  13. Comparison of Direct Side-to-End and End-to-End Hypoglossal-Facial Anastomosis for Facial Nerve Repair.

    Science.gov (United States)

    Samii, Madjid; Alimohamadi, Maysam; Khouzani, Reza Karimi; Rashid, Masoud Rafizadeh; Gerganov, Venelin

    2015-08-01

    The hypoglossal facial anastomosis (HFA) is the gold standard for facial reanimation in patients with severe facial nerve palsy. The major drawbacks of the classic HFA technique are lingual morbidities due to hypoglossal nerve transection. The side-to-end HFA is a modification of the classic technique with fewer tongue-related morbidities. In this study we compared the outcome of the classic end-to-end and the direct side-to-end HFA surgeries performed at our center in regards to the facial reanimation success rate and tongue-related morbidities. Twenty-six successive cases of HFA were enrolled. In 9 of them end-to-end anastomoses were performed, and 17 had direct side-to-end anastomoses. The House-Brackmann (HB) and Pitty and Tator (PT) scales were used to document surgical outcome. The hemiglossal atrophy, swallowing, and hypoglossal nerve function were assessed at follow-up. The original pathology was vestibular schwannoma in 15, meningioma in 4, brain stem glioma in 4, and other pathologies in 3. The mean interval between facial palsy and HFA was 18 months (range: 0-60). The median follow-up period was 20 months. The PT grade at follow-up was worse in patients with a longer interval from facial palsy and HFA (P value: 0.041). The lesion type was the only other factor that affected PT grade (the best results in vestibular schwannoma and the worst in the other pathologies group, P value: 0.038). The recovery period for facial tonicity was longer in patients with radiation therapy before HFA (13.5 vs. 8.5 months) and those with a longer than 2-year interval from facial palsy to HFA (13.5 vs. 8.5 months). Although no significant difference between the side-to-end and the end-to-end groups was seen in terms of facial nerve functional recovery, patients from the side-to-end group had a significantly lower rate of lingual morbidities (tongue hemiatrophy: 100% vs. 5.8%, swallowing difficulty: 55% vs. 11.7%, speech disorder 33% vs. 0%). With the side-to-end HFA

  14. A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

    Directory of Open Access Journals (Sweden)

    Çapan Konca

    2013-01-01

    Full Text Available Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation. Case Report. A 9-year-old boy admitted because of the myoclonic jerks. He had a dysmorphic face, low-set and cup-shaped ears, arachnodactyly, and mild mental retardation. The patient’s laboratory findings were normal except for a mild leucocytosis and hypochromic microcytic anemia. His cerebrospinal fluid was cytologically and biochemically normal. Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region. Although there were no significant epileptical discharges in the electroencephalography, there were slow wave discharges arising from the anterior regions of both hemispheres. Because he had stomachache, abdominal ultrasonography was performed, and horseshoe kidney was determined. Abdominal CT did not reveal any abnormalities except the horseshoe kidney. There were not any cardiac pathologies in echocardiography. He had normal 46XY karyotype and there were no repeated chromosomal derangements, but we could not evaluate for molecular and submicroscopic somatic changes. He was treated with valproic acid and myoclonic jerks did not repeat. Conclusion. We suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.

  15. Restorative interventions for HIV facial lipoatrophy.

    Science.gov (United States)

    Carey, Dianne; Liew, Steven; Emery, Sean

    2008-01-01

    Facial lipoatrophy is a common and distressing manifestation of HIV lipodystrophy. The changes in facial appearance can reduce quality of life, self esteem and antiretroviral adherence. Apart from the modest benefits of thymidine-based nucleoside analog cessation, there are no proven therapies for lipoatrophy. Management of established fat loss can be challenging as restoration of lost fat mass is extremely gradual. Plastic surgery and cosmetic procedures can restore lost facial volume. Both biodegradable and permanent filling agents have been investigated for HIV facial lipoatrophy. Biodegradable products offer a good safety profile, but maintenance of aesthetic benefits necessitates reinjection over time. Although permanent products offer longevity and lower treatment costs, adverse events should they occur can be serious and of long duration. Despite the substantial increase in options for soft-tissue augmentation in recent years, well-performed clinical studies in HIV-infected adults with facial lipoatrophy are scarce, and long-term clinical safety data are lacking. This review will summarize available efficacy and safety data of the biodegradable and permanent agents utilized for soft-tissue augmentation in this population. Difficulties associated with comparing treatment efficacy data, assessment of facial lipoatrophy presence and severity, and measurement of facial fat will be discussed. Available data indicate that in HIV-infected adults, most filling agents have short-term clinically safety, and can provide aesthetic improvement and improve well-being, social functioning and quality of life. However, well-designed studies with objectively assessed endpoints are needed to elucidate optimal treatments for this distressing condition.

  16. Facial nerve mapping and monitoring in lymphatic malformation surgery.

    Science.gov (United States)

    Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

    2009-10-01

    Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

  17. Magnetically retained silicone facial prosthesis

    African Journals Online (AJOL)

    2013-06-09

    Jun 9, 2013 ... Prosthetic camouflaging of facial defects and use of silicone maxillofacial material are the alternatives to the surgical retreatment. Silicone elastomers provide more options to clinician for customization of the facial prosthesis which is simple, esthetically good when coupled with bio magnets for retention.

  18. The Holographic Weyl anomaly

    CERN Document Server

    Henningson, M; Henningson, Mans; Skenderis, Kostas

    1998-01-01

    We calculate the Weyl anomaly for conformal field theories that can be described via the adS/CFT correspondence. This entails regularizing the gravitational part of the corresponding supergravity action in a manner consistent with general covariance. Up to a constant, the anomaly only depends on the dimension d of the manifold on which the conformal field theory is defined. We present concrete expressions for the anomaly in the physically relevant cases d = 2, 4 and 6. In d = 2 we find for the central charge c = 3 l/ 2 G_N in agreement with considerations based on the asymptotic symmetry algebra of adS_3. In d = 4 the anomaly agrees precisely with that of the corresponding N = 4 superconformal SU(N) gauge theory. The result in d = 6 provides new information for the (0, 2) theory, since its Weyl anomaly has not been computed previously. The anomaly in this case grows as N^3, where N is the number of coincident M5 branes, and it vanishes for a Ricci-flat background.

  19. Fire retardant polyisocyanurate foam

    Science.gov (United States)

    Riccitiello, S. R.; Parker, J. A.

    1972-01-01

    Fire retardant properties of low density polymer foam are increased. Foam has pendant nitrile groups which form thermally-stable heterocyclic structures at temperature below degradation temperature of urethane linkages.

  20. The neurosurgical treatment of neuropathic facial pain.

    Science.gov (United States)

    Brown, Jeffrey A

    2014-04-01

    This article reviews the definition, etiology and evaluation, and medical and neurosurgical treatment of neuropathic facial pain. A neuropathic origin for facial pain should be considered when evaluating a patient for rhinologic surgery because of complaints of facial pain. Neuropathic facial pain is caused by vascular compression of the trigeminal nerve in the prepontine cistern and is characterized by an intermittent prickling or stabbing component or a constant burning, searing pain. Medical treatment consists of anticonvulsant medication. Neurosurgical treatment may require microvascular decompression of the trigeminal nerve. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Predicting facial characteristics from complex polygenic variations

    DEFF Research Database (Denmark)

    Fagertun, Jens; Wolffhechel, Karin Marie Brandt; Pers, Tune

    2015-01-01

    Research into the importance of the human genome in the context of facial appearance is receiving increasing attention and has led to the detection of several Single Nucleotide Polymorphisms (SNPs) of importance. In this work we attempt a holistic approach predicting facial characteristics from...... genetic principal components across a population of 1,266 individuals. For this we perform a genome-wide association analysis to select a large number of SNPs linked to specific facial traits, recode these to genetic principal components and then use these principal components as predictors for facial...

  2. MAGSAT anomaly map and continental drift

    Science.gov (United States)

    Lemouel, J. L. (Principal Investigator); Galdeano, A.; Ducruix, J.

    1981-01-01

    Anomaly maps of high quality are needed to display unambiguously the so called long wave length anomalies. The anomalies were analyzed in terms of continental drift and the nature of their sources is discussed. The map presented confirms the thinness of the oceanic magnetized layer. Continental magnetic anomalies are characterized by elongated structures generally of east-west trend. Paleomagnetic reconstruction shows that the anomalies found in India, Australia, and Antarctic exhibit a fair consistency with the African anomalies. It is also shown that anomalies are locked under the continents and have a fixed geometry.

  3. Small vestibular schwannomas presenting with facial nerve palsy.

    Science.gov (United States)

    Espahbodi, Mana; Carlson, Matthew L; Fang, Te-Yung; Thompson, Reid C; Haynes, David S

    2014-06-01

    To describe the surgical management and convalescence of two patients presenting with severe facial nerve weakness associated with small intracanalicular vestibular schwannomas (VS). Retrospective review. Two adult female patients presenting with audiovestibular symptoms and subacute facial nerve paralysis (House-Brackmann Grade IV and V). In both cases, post-contrast T1-weighted magnetic resonance imaging revealed an enhancing lesion within the internal auditory canal without lateral extension beyond the fundus. Translabyrinthine exploration demonstrated vestibular nerve origin of tumor, extrinsic to the facial nerve, and frozen section pathology confirmed schwannoma. Gross total tumor resection with VIIth cranial nerve preservation and decompression of the labyrinthine segment of the facial nerve was performed. Both patients recovered full motor function between 6 and 8 months after surgery. Although rare, small VS may cause severe facial neuropathy, mimicking the presentation of facial nerve schwannomas and other less common pathologies. In the absence of labyrinthine extension on MRI, surgical exploration is the only reliable means of establishing a diagnosis. In the case of confirmed VS, early gross total resection with facial nerve preservation and labyrinthine segment decompression may afford full motor recovery-an outcome that cannot be achieved with facial nerve grafting.

  4. Do Dynamic Compared to Static Facial Expressions of Happiness and Anger Reveal Enhanced Facial Mimicry?

    Directory of Open Access Journals (Sweden)

    Krystyna Rymarczyk

    Full Text Available Facial mimicry is the spontaneous response to others' facial expressions by mirroring or matching the interaction partner. Recent evidence suggested that mimicry may not be only an automatic reaction but could be dependent on many factors, including social context, type of task in which the participant is engaged, or stimulus properties (dynamic vs static presentation. In the present study, we investigated the impact of dynamic facial expression and sex differences on facial mimicry and judgment of emotional intensity. Electromyography recordings were recorded from the corrugator supercilii, zygomaticus major, and orbicularis oculi muscles during passive observation of static and dynamic images of happiness and anger. The ratings of the emotional intensity of facial expressions were also analysed. As predicted, dynamic expressions were rated as more intense than static ones. Compared to static images, dynamic displays of happiness also evoked stronger activity in the zygomaticus major and orbicularis oculi, suggesting that subjects experienced positive emotion. No muscles showed mimicry activity in response to angry faces. Moreover, we found that women exhibited greater zygomaticus major muscle activity in response to dynamic happiness stimuli than static stimuli. Our data support the hypothesis that people mimic positive emotions and confirm the importance of dynamic stimuli in some emotional processing.

  5. Referential first mention in narratives by mildly mentally retarded adults.

    Science.gov (United States)

    Kernan, K T; Sabsay, S

    1987-01-01

    Referential first mentions in narrative reports of a short film by 40 mildly mentally retarded adults and 20 nonretarded adults were compared. The mentally retarded sample included equal numbers of male and female, and black and white speakers. The mentally retarded speakers made significantly fewer first mentions and significantly more errors in the form of the first mentions than did nonretarded speakers. A pattern of better performance by black males than by other mentally retarded speakers was found. It is suggested that task difficulty and incomplete mastery of the use of definite and indefinite forms for encoding old and new information, rather than some global type of egocentrism, accounted for the poorer performance by mentally retarded speakers.

  6. Fire and smoke retardants

    Science.gov (United States)

    Drews, M. J.

    Despite a reduction in Federal regulatory activity, research concerned with flame retardancy and smoke suppression in the private sector appears to be increasing. This trend seem related to the increased utilization of plastics for end uses which traditionally have employed metal or wood products. As a result, new markets have appeared for thermally stable and fire resistance thermoplastic materials, and this in turn has spurred research and development activity. In addition, public awareness of the dangers associated with fire has increased as a result of several highly publicized hotel and restaurant fires within the past two years. The consumers recognition of flammability characteristics as important materials property considerations has increased. The current status of fire and smoke retardant chemistry and research are summarized.

  7. Moral reasoning of Piagetian-matched retarded and nonretarded children and adolescents.

    Science.gov (United States)

    Kahn, J V

    1983-09-01

    The moral reasoning of four IQ/etiology groups was investigated: 19 organically abnormal moderately retarded, 19 organically abnormal mildly retarded, 19 mildly retarded due to psychosocial disadvantage, and 19 nonretarded individuals. In each group 12 Ss were preoperational and seven concrete operational. Moral reasoning was assessed by an instrument using moral dilemmas based on Kohlberg's procedures. The Slosson Intelligence Test was used to determine the IQs and mental ages of each S. Piagetian stage was determined with the standard conservation of number tasks. The findings indicated no overall significant differences between the mildly retarded and the nonretarded Ss or between the mildly retarded and the moderately retarded Ss, but differences were found between the moderately retarded and the nonretarded Ss. A significant interaction was found between the two independent variables, IQ/etiology and cognitive level. The results were discussed as supporting Zigler's development position and as damaging to Kohlberg's position.

  8. Identification of facial shape by applying golden ratio to the facial measurements: an interracial study in malaysian population.

    Science.gov (United States)

    Packiriswamy, Vasanthakumar; Kumar, Pramod; Rao, Mohandas

    2012-12-01

    The "golden ratio" is considered as a universal facial aesthetical standard. Researcher's opinion that deviation from golden ratio can result in development of facial abnormalities. This study was designed to study the facial morphology and to identify individuals with normal, short, and long face. We studied 300 Malaysian nationality subjects aged 18-28 years of Chinese, Indian, and Malay extraction. The parameters measured were physiognomical facial height and width of face, and physiognomical facial index was calculated. Face shape was classified based on golden ratio. Independent t test was done to test the difference between sexes and among the races. The mean values of the measurements and index showed significant sexual and interracial differences. Out of 300 subjects, the face shape was normal in 60 subjects, short in 224 subjects, and long in 16 subjects. As anticipated, the measurements showed variations according to gender and race. Only 60 subjects had a regular face shape, and remaining 240 subjects had irregular face shape (short and long). Since the short and long shape individuals may be at risk of developing various disorders, the knowledge of facial shapes in the given population is important for early diagnostic and treatment procedures.

  9. Perception of global facial geometry is modulated through experience

    Directory of Open Access Journals (Sweden)

    Meike Ramon

    2015-03-01

    Full Text Available Identification of personally familiar faces is highly efficient across various viewing conditions. While the presence of robust facial representations stored in memory is considered to aid this process, the mechanisms underlying invariant identification remain unclear. Two experiments tested the hypothesis that facial representations stored in memory are associated with differential perceptual processing of the overall facial geometry. Subjects who were personally familiar or unfamiliar with the identities presented discriminated between stimuli whose overall facial geometry had been manipulated to maintain or alter the original facial configuration (see Barton, Zhao & Keenan, 2003. The results demonstrate that familiarity gives rise to more efficient processing of global facial geometry, and are interpreted in terms of increased holistic processing of facial information that is maintained across viewing distances.

  10. A small-world network model of facial emotion recognition.

    Science.gov (United States)

    Takehara, Takuma; Ochiai, Fumio; Suzuki, Naoto

    2016-01-01

    Various models have been proposed to increase understanding of the cognitive basis of facial emotions. Despite those efforts, interactions between facial emotions have received minimal attention. If collective behaviours relating to each facial emotion in the comprehensive cognitive system could be assumed, specific facial emotion relationship patterns might emerge. In this study, we demonstrate that the frameworks of complex networks can effectively capture those patterns. We generate 81 facial emotion images (6 prototypes and 75 morphs) and then ask participants to rate degrees of similarity in 3240 facial emotion pairs in a paired comparison task. A facial emotion network constructed on the basis of similarity clearly forms a small-world network, which features an extremely short average network distance and close connectivity. Further, even if two facial emotions have opposing valences, they are connected within only two steps. In addition, we show that intermediary morphs are crucial for maintaining full network integration, whereas prototypes are not at all important. These results suggest the existence of collective behaviours in the cognitive systems of facial emotions and also describe why people can efficiently recognize facial emotions in terms of information transmission and propagation. For comparison, we construct three simulated networks--one based on the categorical model, one based on the dimensional model, and one random network. The results reveal that small-world connectivity in facial emotion networks is apparently different from those networks, suggesting that a small-world network is the most suitable model for capturing the cognitive basis of facial emotions.

  11. Global aspects of gauge anomalies

    International Nuclear Information System (INIS)

    Zhang, H.

    1988-01-01

    This dissertation discusses the global aspects of gauge anomalies in even dimensions. After a very brief description of local gauge anomalies, the possible global gauge anomalies for various gauge theories are discussed using homotopy theory. One of the main results obtained in a general formula for the SU(n - k) global gauge anomaly coefficient in arbitrary 2n dimensions. The result is expressed in terms of the James number of the Stiefel manifold SU(n + 1)/SU(n - k) and the generalized Dynkin indices. From this, the possibilities of SU(n), SU(n - 1), and SU(2) global gauge anomalies in arbitrary 2n dimensions have been determined. We have also determined the possibilities of global gauge anomalies for the gauge groups SP(2N) and SO(N) in certain general dimensions, as well as for the exceptional gauge groups in specific dimensions. Moreover, several general propositions are formulated and proved which are very useful in the study of global gauge anomalies

  12. [Presurgical orthodontics for facial asymmetry].

    Science.gov (United States)

    Labarrère, H

    2003-03-01

    As with the treatment of all facial deformities, orthodontic pre-surgical preparation for facial asymmetry should aim at correcting severe occlusal discrepancies not solely on the basis of a narrow occlusal analysis but also in a way that will not disturb the proposed surgical protocol. In addition, facial asymmetries require specific adjustments, difficult to derive and to apply because of their inherent atypical morphological orientation of both alveolar and basal bony support. Three treated cases illustrate different solutions to problems posed by pathological torque: this torque must be considered with respect to proposed surgical changes, within the framework of their limitations and their possible contra-indications.

  13. Pattern of facial palsy in a typical Nigerian specialist hospital.

    Science.gov (United States)

    Lamina, S; Hanif, S

    2012-12-01

    Data on incidence of facial palsy is generally lacking in Nigeria. To assess six years' incidence of facial palsy in Murtala Muhammed Specialist Hospital (MMSH), Kano, Nigeria. The records of patients diagnosed as facial problems between January 2000 and December 2005 were scrutinized. Data on diagnosis, age, sex, side affected, occupation and causes were obtained. A total number of 698 patients with facial problems were recorded. Five hundred and ninety four (85%) were diagnosed as facial palsy. Out of the diagnosed facial palsy, males (56.2%) had a higher incidence than females; 20-34 years age group (40.3%) had a greater prevalence; the commonest cause of facial palsy was found out to be Idiopathic (39.1%) and was most common among business men (31.6%). Right sided facial palsy (52.2%) was predominant. Incidence of facial palsy was highest in 2003 (25.3%) and decreased from 2004. It was concluded that the incidence of facial palsy was high and Bell's palsy remains the most common causes of facial (nerve) paralysis.

  14. Facial Palsy Following Embolization of a Juvenile Nasopharyngeal Angiofibroma.

    Science.gov (United States)

    Tawfik, Kareem O; Harmon, Jeffrey J; Walters, Zoe; Samy, Ravi; de Alarcon, Alessandro; Stevens, Shawn M; Abruzzo, Todd

    2018-05-01

    To describe a case of the rare complication of facial palsy following preoperative embolization of a juvenile nasopharyngeal angiofibroma (JNA). To illustrate the vascular supply to the facial nerve and as a result, highlight the etiology of the facial nerve palsy. The angiography and magnetic resonance (MR) imaging of a case of facial palsy following preoperative embolization of a JNA is reviewed. A 13-year-old male developed left-sided facial palsy following preoperative embolization of a left-sided JNA. Evaluation of MR imaging studies and retrospective review of the angiographic data suggested errant embolization of particles into the petrosquamosal branch of the middle meningeal artery (MMA), a branch of the internal maxillary artery (IMA), through collateral vasculature. The petrosquamosal branch of the MMA is the predominant blood supply to the facial nerve in the facial canal. The facial palsy resolved since complete infarction of the nerve was likely prevented by collateral blood supply from the stylomastoid artery. Facial palsy is a potential complication of embolization of the IMA, a branch of the external carotid artery (ECA). This is secondary to ischemia of the facial nerve due to embolization of its vascular supply. Clinicians should be aware of this potential complication and counsel patients accordingly prior to embolization for JNA.

  15. 3D-Ultrasonography for evaluation of facial muscles in patients with chronic facial palsy or defective healing: a pilot study.

    Science.gov (United States)

    Volk, Gerd Fabian; Pohlmann, Martin; Finkensieper, Mira; Chalmers, Heather J; Guntinas-Lichius, Orlando

    2014-01-01

    While standardized methods are established to examine the pathway from motorcortex to the peripheral nerve in patients with facial palsy, a reliable method to evaluate the facial muscles in patients with long-term palsy for therapy planning is lacking. A 3D ultrasonographic (US) acquisition system driven by a motorized linear mover combined with conventional US probe was used to acquire 3D data sets of several facial muscles on both sides of the face in a healthy subject and seven patients with different types of unilateral degenerative facial nerve lesions. The US results were correlated to the duration of palsy and the electromyography results. Consistent 3D US based volumetry through bilateral comparison was feasible for parts of the frontalis muscle, orbicularis oculi muscle, depressor anguli oris muscle, depressor labii inferioris muscle, and mentalis muscle. With the exception of the frontal muscle, the facial muscles volumes were much smaller on the palsy side (minimum: 3% for the depressor labii inferior muscle) than on the healthy side in patients with severe facial nerve lesion. In contrast, the frontal muscles did not show a side difference. In the two patients with defective healing after spontaneous regeneration a decrease in muscle volume was not seen. Synkinesis and hyperkinesis was even more correlated to muscle hypertrophy on the palsy compared with the healthy side. 3D ultrasonography seems to be a promising tool for regional and quantitative evaluation of facial muscles in patients with facial palsy receiving a facial reconstructive surgery or conservative treatment.

  16. Nerve crush but not displacement-induced stretch of the intra-arachnoidal facial nerve promotes facial palsy after cerebellopontine angle surgery.

    Science.gov (United States)

    Bendella, Habib; Brackmann, Derald E; Goldbrunner, Roland; Angelov, Doychin N

    2016-10-01

    Little is known about the reasons for occurrence of facial nerve palsy after removal of cerebellopontine angle tumors. Since the intra-arachnoidal portion of the facial nerve is considered to be so vulnerable that even the slightest tension or pinch may result in ruptured axons, we tested whether a graded stretch or controlled crush would affect the postoperative motor performance of the facial (vibrissal) muscle in rats. Thirty Wistar rats, divided into five groups (one with intact controls and four with facial nerve lesions), were used. Under inhalation anesthesia, the occipital squama was opened, the cerebellum gently retracted to the left, and the intra-arachnoidal segment of the right facial nerve exposed. A mechanical displacement of the brainstem with 1 or 3 mm toward the midline or an electromagnet-controlled crush of the facial nerve with a tweezers at a closure velocity of 50 and 100 mm/s was applied. On the next day, whisking motor performance was determined by video-based motion analysis. Even the larger (with 3 mm) mechanical displacement of the brainstem had no harmful effect: The amplitude of the vibrissal whisks was in the normal range of 50°-60°. On the other hand, even the light nerve crush (50 mm/s) injured the facial nerve and resulted in paralyzed vibrissal muscles (amplitude of 10°-15°). We conclude that, contrary to the generally acknowledged assumptions, it is the nerve crush but not the displacement-induced stretching of the intra-arachnoidal facial trunk that promotes facial palsy after cerebellopontine angle surgery in rats.

  17. Estimador de calidad en sistemas de reconocimiento facial

    OpenAIRE

    Espejo Caballero, Daniel

    2015-01-01

    El fin de este proyecto es conseguir obtener una estimación de la calidad de una imagen facial, a partir del estudio y extracción de características obtenidas, a partir de las imágenes faciales. The goal of this project is get a quality estimation of a facial image, using the extraction and learning of the differents features that we can extract from a facial image.

  18. Recognizing Facial Slivers.

    Science.gov (United States)

    Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

    2018-07-01

    We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

  19. [The history of facial paralysis].

    Science.gov (United States)

    Glicenstein, J

    2015-10-01

    Facial paralysis has been a recognized condition since Antiquity, and was mentionned by Hippocratus. In the 17th century, in 1687, the Dutch physician Stalpart Van der Wiel rendered a detailed observation. It was, however, Charles Bell who, in 1821, provided the description that specified the role of the facial nerve. Facial nerve surgery began at the end of the 19th century. Three different techniques were used successively: nerve anastomosis, (XI-VII Balance 1895, XII-VII, Korte 1903), myoplasties (Lexer 1908), and suspensions (Stein 1913). Bunnell successfully accomplished the first direct facial nerve repair in the temporal bone, in 1927, and in 1932 Balance and Duel experimented with nerve grafts. Thanks to progress in microsurgical techniques, the first faciofacial anastomosis was realized in 1970 (Smith, Scaramella), and an account of the first microneurovascular muscle transfer published in 1976 by Harii. Treatment of the eyelid paralysis was at the origin of numerous operations beginning in the 1960s; including palpebral spring (Morel Fatio 1962) silicone sling (Arion 1972), upperlid loading with gold plate (Illig 1968), magnets (Muhlbauer 1973) and transfacial nerve grafts (Anderl 1973). By the end of the 20th century, surgeons had at their disposal a wide range of valid techniques for facial nerve surgery, including modernized versions of older techniques. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. Body Awareness in Children with Mental Retardation

    Science.gov (United States)

    Simons, Johan; Dedroog, Inge

    2009-01-01

    The body awareness of 124 toddlers with mental retardation and of 124 children developing normally matched to them on age and gender was examined. Twenty-nine of the children with mental retardation were diagnosed as Down syndrome (DS). The "Pointing and Naming" Test of Berges and Lezine [Berges, J., & Lezine, I. (1978). "Test d'imitation de…

  1. Positive facial expressions during retrieval of self-defining memories.

    Science.gov (United States)

    Gandolphe, Marie Charlotte; Nandrino, Jean Louis; Delelis, Gérald; Ducro, Claire; Lavallee, Audrey; Saloppe, Xavier; Moustafa, Ahmed A; El Haj, Mohamad

    2017-11-14

    In this study, we investigated, for the first time, facial expressions during the retrieval of Self-defining memories (i.e., those vivid and emotionally intense memories of enduring concerns or unresolved conflicts). Participants self-rated the emotional valence of their Self-defining memories and autobiographical retrieval was analyzed with a facial analysis software. This software (Facereader) synthesizes the facial expression information (i.e., cheek, lips, muscles, eyebrow muscles) to describe and categorize facial expressions (i.e., neutral, happy, sad, surprised, angry, scared, and disgusted facial expressions). We found that participants showed more emotional than neutral facial expressions during the retrieval of Self-defining memories. We also found that participants showed more positive than negative facial expressions during the retrieval of Self-defining memories. Interestingly, participants attributed positive valence to the retrieved memories. These findings are the first to demonstrate the consistency between facial expressions and the emotional subjective experience of Self-defining memories. These findings provide valuable physiological information about the emotional experience of the past.

  2. [Changes in facial nerve function, morphology and neurotrophic factor III expression following three types of facial nerve injury].

    Science.gov (United States)

    Zhang, Lili; Wang, Haibo; Fan, Zhaomin; Han, Yuechen; Xu, Lei; Zhang, Haiyan

    2011-01-01

    To study the changes in facial nerve function, morphology and neurotrophic factor III (NT-3) expression following three types of facial nerve injury. Changes in facial nerve function (in terms of blink reflex (BF), vibrissae movement (VM) and position of nasal tip) were assessed in 45 rats in response to three types of facial nerve injury: partial section of the extratemporal segment (group one), partial section of the facial canal segment (group two) and complete transection of the facial canal segment lesion (group three). All facial nerves specimen were then cut into two parts at the site of the lesion after being taken from the lesion site on 1st, 7th, 21st post-surgery-days (PSD). Changes of morphology and NT-3 expression were evaluated using the improved trichrome stain and immunohistochemistry techniques ,respectively. Changes in facial nerve function: In group 1, all animals had no blink reflex (BF) and weak vibrissae movement (VM) at the 1st PSD; The blink reflex in 80% of the rats recovered partly and the vibrissae movement in 40% of the rats returned to normal at the 7th PSD; The facial nerve function in 600 of the rats was almost normal at the 21st PSD. In group 2, all left facial nerve paralyzed at the 1st PSD; The blink reflex partly recovered in 40% of the rats and the vibrissae movement was weak in 80% of the rats at the 7th PSD; 8000 of the rats'BF were almost normal and 40% of the rats' VM completely recovered at the 21st PSD. In group 3, The recovery couldn't happen at anytime. Changes in morphology: In group 1, the size of nerve fiber differed in facial canal segment and some of myelin sheath and axons degenerated at the 7th PSD; The fibres' degeneration turned into regeneration at the 21st PSD; In group 2, the morphologic changes in this group were familiar with the group 1 while the degenerated fibers were more and dispersed in transection at the 7th PSD; Regeneration of nerve fibers happened at the 21st PSD. In group 3, most of the fibers

  3. Hypoglossal-facial-jump-anastomosis without an interposition nerve graft.

    Science.gov (United States)

    Beutner, Dirk; Luers, Jan C; Grosheva, Maria

    2013-10-01

    The hypoglossal-facial-anastomosis is the most often applied procedure for the reanimation of a long lasting peripheral facial nerve paralysis. The use of an interposition graft and its end-to-side anastomosis to the hypoglossal nerve allows the preservation of the tongue function and also requires two anastomosis sites and a free second donor nerve. We describe the modified technique of the hypoglossal-facial-jump-anastomosis without an interposition and present the first results. Retrospective case study. We performed the facial nerve reconstruction in five patients. The indication for the surgery was a long-standing facial paralysis with preserved portion distal to geniculate ganglion, absent voluntary activity in the needle facial electromyography, and an intact bilateral hypoglossal nerve. Following mastoidectomy, the facial nerve was mobilized in the fallopian canal down to its bifurcation in the parotid gland and cut in its tympanic portion distal to the lesion. Then, a tensionless end-to-side suture to the hypoglossal nerve was performed. The facial function was monitored up to 16 months postoperatively. The reconstruction technique succeeded in all patients: The facial function improved within the average time period of 10 months to the House-Brackmann score 3. This modified technique of the hypoglossal-facial reanimation is a valid method with good clinical results, especially in cases of a preserved intramastoidal facial nerve. Level 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  4. Extra Facial Landmark Localization via Global Shape Reconstruction

    Directory of Open Access Journals (Sweden)

    Shuqiu Tan

    2017-01-01

    Full Text Available Localizing facial landmarks is a popular topic in the field of face analysis. However, problems arose in practical applications such as handling pose variations and partial occlusions while maintaining moderate training model size and computational efficiency still challenges current solutions. In this paper, we present a global shape reconstruction method for locating extra facial landmarks comparing to facial landmarks used in the training phase. In the proposed method, the reduced configuration of facial landmarks is first decomposed into corresponding sparse coefficients. Then explicit face shape correlations are exploited to regress between sparse coefficients of different facial landmark configurations. Finally extra facial landmarks are reconstructed by combining the pretrained shape dictionary and the approximation of sparse coefficients. By applying the proposed method, both the training time and the model size of a class of methods which stack local evidences as an appearance descriptor can be scaled down with only a minor compromise in detection accuracy. Extensive experiments prove that the proposed method is feasible and is able to reconstruct extra facial landmarks even under very asymmetrical face poses.

  5. Anomalies on orbifolds

    Energy Technology Data Exchange (ETDEWEB)

    Arkani-Hamed, Nima; Cohen, Andrew G.; Georgi, Howard

    2001-03-16

    We discuss the form of the chiral anomaly on an S1/Z2 orbifold with chiral boundary conditions. We find that the 4-divergence of the higher-dimensional current evaluated at a given point in the extra dimension is proportional to the probability of finding the chiral zero mode there. Nevertheless the anomaly, appropriately defined as the five dimensional divergence of the current, lives entirely on the orbifold fixed planes and is independent of the shape of the zero mode. Therefore long distance four dimensional anomaly cancellation ensures the consistency of the higher dimensional orbifold theory.

  6. Flame retardancy and thermal properties of epoxy acrylate resin/alpha-zirconium phosphate nanocomposites used for UV-curing flame retardant films

    International Nuclear Information System (INIS)

    Xing Weiyi; Jie Ganxin; Song Lei; Wang Xin; Lv Xiaoqi; Hu Yuan

    2011-01-01

    This paper reported the UV-curing flame retardant film, which consisted of epoxy acrylate resin (EA) used as an oligomer, tri(acryloyloxyethyl) phosphate (TAEP) and triglycidyl isocyanurate acrylate (TGICA) used as flame retardant (FR). The flame retardancy and thermal properties of films were reinforced by using alpha-zirconium phosphate (α-Zr (HPO 4 ) 2 H 2 O, α-ZrP). The morphology of nanocomposite film was characterized by X-ray diffraction (XRD) and transmission electron microscopy (TEM). The results showed that the organophilic α-ZrP (OZrP) layers were dispersed well in epoxy acrylate resin. Microscale Combustion Calorimeter (MCC), thermogravimetric analysis (TGA) and thermogravimetric analysis/infrared spectrometry (TGA-IR) were used to characterize the flame retardant property and thermal stability. It was found that the incorporation of TAEP and TGICA can reduce the flammability of EA. Moreover, further reductions were observed due to the addition of OZrP. The char residue for systems with or without OZrP was also explored by scanning electron microscopy (SEM).

  7. [Clinical features of strabismus in psychomotor retardation].

    Science.gov (United States)

    Arias-Cabello, Belina; Arroyo-Yllanes, María Estela; Pérez-Pérez, José Fernando; Fonte-Vázquez, Anselmo

    2016-01-01

    In psychomotor retardation there is an abnormal development of mental, sensory and motor skills associated with ocular manifestations. There are biological and psychosocial risk factors that predispose an individual to neurological damage. From 50% to 80% of patients with strabismus retardation have special features that differentiate it from the rest of strabismus in healthy patients. To determine the most common type of strabismus in patients with psychomotor retardation and their clinical features. Patients with psychomotor retardation and strabismus were included. An ophthalmological examination was performed, as well as an evaluation of the characteristics of strabismus, including perinatal and post-natal history. Esotropia was the most frequent squint with 65.3%, followed by exotropia with 32.7%. The variability in the squint magnitude was 60% in both types, and 6 patients had dissociated vertical deviation. Most of the patients started to present strabismus since they were born. The most frequent perinatal risk factors were threatened miscarriage, pre-eclampsia, foetal distress, and hypoxia. Esotropia is the most common type of strabismus in psychomotor retardation. The variability of squint magnitude is a characteristic in these patients. The moderate variability is the most frequent in both esotropia and exotropia. The most common refractive error is hyperopic astigmatism in esotropia and the myopic kind in exotropia. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  8. Masseteric-facial nerve transposition for reanimation of the smile in incomplete facial paralysis.

    Science.gov (United States)

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

    Incomplete facial paralysis occurs in about a third of patients with Bell's palsy. Although their faces are symmetrical at rest, when they smile they have varying degrees of disfigurement. Currently, cross-face nerve grafting is one of the most useful techniques for reanimation. Transfer of the masseteric nerve, although widely used for complete paralysis, has not to our knowledge been reported for incomplete palsy. Between December 2008 and November 2013, we reanimated the faces of 9 patients (2 men and 7 women) with incomplete unilateral facial paralysis with transposition of the masseteric nerve. Sex, age at operation, cause of paralysis, duration of denervation, recipient nerves used, and duration of follow-up were recorded. Commissural excursion, velocity, and patients' satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. The mean (SD) age at operation was 39 (±6) years and the duration of denervation was 29 (±19) months. There were no complications that required further intervention. Duration of follow-up ranged from 6-26 months. FACIAL CLIMA showed improvement in both commissural excursion and velocity of more than two thirds in 6 patients, more than one half in 2 patients and less than one half in one. Qualitative evaluation showed a slight or pronounced improvement in 7/9 patients. The masseteric nerve is a reliable alternative for reanimation of the smile in patients with incomplete facial paralysis. Its main advantages include its consistent anatomy, a one-stage operation, and low morbidity at the donor site. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  9. What does facial symmetry reveal about health and personality?

    Directory of Open Access Journals (Sweden)

    Švegar Domagoj

    2016-09-01

    Full Text Available Over the last two decades, facial symmetry has been intensively researched. The present article aims to summarize empirical research concerning relations between facial symmetry and health and facial symmetry and personality. A systematic review of the literature shows that facial symmetry is one of the most influential visual markers of attractiveness and health, important for mate selection, while asymmetry can be considered a consequence of an individual’s inability to resist environmental and genetic stressors during development of the organism. However, in spite of evidence suggesting that preferences for facial symmetry are deeply rooted in our evolutionary history, a strong connection between facial symmetry and health is demonstrated only in studies measuring perceived health, while there is only scarce evidence corroborating the link between symmetry and actual health. The interconnections between facial symmetry and personality have not yet been extensively researched. Less than a dozen studies have addressed that issue and they have reached different conclusions. Some evidence suggests that facial symmetry signals personality attributes that indicate good psychological health, while other findings imply that pro-social personality traits negatively correlate with facial symmetry.

  10. The Association Between Men's Sexist Attitudes and Facial Hair.

    Science.gov (United States)

    Oldmeadow, Julian A; Dixson, Barnaby J

    2016-05-01

    Facial hair, like many masculine secondary sexual traits, plays a significant role in perceptions of an array of sociosexual traits in men. While there is consensus that beards enhance perceptions of masculinity, age, social dominance, and aggressiveness, the perceived attractiveness of facial hair varies greatly across women. Given the ease with which facial hair can be groomed and removed entirely, why should some men retain beards and others choose to remove them? We hypothesized that men with relatively sexist attitudes would be more likely to allow their facial hair to grow than men with less sexist attitudes. Men from the USA (n = 223) and India (n = 309) completed an online survey measuring demographic variables, ambivalent sexism, and facial hair status. After controlling for demographic variables, men with facial hair were significantly higher in hostile sexism than clean-shaven men; hostile sexism was a significant predictor of facial hair status over and above demographic variables; and facial hair was more frequent among ambivalent and hostile sexists than among benevolent and non-sexists. It is suggested that sexist men choose to grow facial hair because it maximizes sexual dimorphism and augments perceived masculinity and dominance.

  11. Looking with different eyes: The psychological meaning of categorisation goals moderates facial reactivity to facial expressions

    NARCIS (Netherlands)

    van Dillen, L.F.; Harris, L.T.; van Dijk, W.W.; Rotteveel, M.

    2015-01-01

    In the present research we examined whether the psychological meaning of people's categorisation goals affects facial muscle activity in response to facial expressions of emotion. We had participants associate eye colour (blue, brown) with either a personality trait (extraversion) or a physical

  12. Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.

    Science.gov (United States)

    Paradowska-Stolarz, Anna M

    2014-01-01

    Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment.

  13. Psychiatric Illness in Mentally Retarded Adolescents: Clinical Features.

    Science.gov (United States)

    Masi, Gabriele

    1998-01-01

    Describes the clinical features of the most important psychiatric disorders in mentally retarded adolescents: mood disorders, psychotic disorders, severe behavioral disorders, personality disorders, anxiety disorders, and attention-deficit The impact of mental retardation on personality development is confirmed by the high psychopathological…

  14. Facial nerve problems and Bell's palsy

    OpenAIRE

    Sala, DV; Venter, C; Valenas, O

    2015-01-01

    Bell's palsy is paralysis or weakness of muscle at the hemifacial level, a form of temporary facial paralysis, probable a virus infection or trauma, to one or two facial nerves. Damage to the facial nerve innervating the muscles on one side of the face result in a flabby appearance, fell the respective hemiface. Nerve damage can also affect the sense of taste and salivary and lacrimal secretion. This condition begins suddenly, often overnight, and usually gets better on its own within a few w...

  15. [Measuring impairment of facial affects recognition in schizophrenia. Preliminary study of the facial emotions recognition task (TREF)].

    Science.gov (United States)

    Gaudelus, B; Virgile, J; Peyroux, E; Leleu, A; Baudouin, J-Y; Franck, N

    2015-06-01

    The impairment of social cognition, including facial affects recognition, is a well-established trait in schizophrenia, and specific cognitive remediation programs focusing on facial affects recognition have been developed by different teams worldwide. However, even though social cognitive impairments have been confirmed, previous studies have also shown heterogeneity of the results between different subjects. Therefore, assessment of personal abilities should be measured individually before proposing such programs. Most research teams apply tasks based on facial affects recognition by Ekman et al. or Gur et al. However, these tasks are not easily applicable in a clinical exercise. Here, we present the Facial Emotions Recognition Test (TREF), which is designed to identify facial affects recognition impairments in a clinical practice. The test is composed of 54 photos and evaluates abilities in the recognition of six universal emotions (joy, anger, sadness, fear, disgust and contempt). Each of these emotions is represented with colored photos of 4 different models (two men and two women) at nine intensity levels from 20 to 100%. Each photo is presented during 10 seconds; no time limit for responding is applied. The present study compared the scores of the TREF test in a sample of healthy controls (64 subjects) and people with stabilized schizophrenia (45 subjects) according to the DSM IV-TR criteria. We analysed global scores for all emotions, as well as sub scores for each emotion between these two groups, taking into account gender differences. Our results were coherent with previous findings. Applying TREF, we confirmed an impairment in facial affects recognition in schizophrenia by showing significant differences between the two groups in their global results (76.45% for healthy controls versus 61.28% for people with schizophrenia), as well as in sub scores for each emotion except for joy. Scores for women were significantly higher than for men in the population

  16. The Van Hiele geometry thinking levels of mild mental retardation students

    Science.gov (United States)

    Shomad, Z. A.; Kusmayadi, T. A.; Riyadi

    2017-12-01

    This research is to investigate the level of mild mental retardation geometry students thinking. This research focuses on the geometry thinking level based on Van Hiele theory. This study uses qualitative methods with case study strategy. Data obtained from observation and tests result. The subjects are 12 mental retardation students. The result show that ability of mild mental retardation students with each other is different but have same level of level thinking geometry. The geometry thinking level of mental retardation students was identified in level 1 of the Van Hiele theory. Based on the level thinking geometry of mental retardation students simplify geometry thinking teachers in selecting appropriate learning methods, choose the materials in accordance with ability, and can modify the material following the geometry thinking level of mental retardation students.

  17. Eagle's syndrome with facial palsy

    Directory of Open Access Journals (Sweden)

    Mohammed Al-Hashim

    2017-01-01

    Full Text Available Eagle's syndrome (ES is a rare disease in which the styloid process is elongated and compressing adjacent structures. We describe a rare presentation of ES in which the patient presented with facial palsy. Facial palsy as a presentation of ES is very rare. A review of the English literature revealed only one previously reported case. Our case is a 39-year-old male who presented with left facial palsy. He also reported a 9-year history of the classical symptoms of ES. A computed tomography scan with three-dimensional reconstruction confirmed the diagnoses. He was started on conservative management but without significant improvement. Surgical intervention was offered, but the patient refused. It is important for otolaryngologists, dentists, and other specialists who deal with head and neck problems to be able to recognize ES despite its rarity. Although the patient responded to a treatment similar to that of Bell's palsy because of the clinical features and imaging, ES was most likely the cause of his facial palsy.

  18. Facial Scar Revision: Understanding Facial Scar Treatment

    Science.gov (United States)

    ... keep the head elevated when lying down, to use cold compresses to reduce swelling, and to avoid any activity that places undue stress on the area of the incision. Depending on the surgery performed and the site of the scar, the facial plastic surgeon will explain the types of activities to ...

  19. Experimental intrauterine growth retardation.

    Science.gov (United States)

    van Marthens, E; Harel, S; Zamenshof, S

    1975-01-01

    The effects of experimental intrauterine growth retardation on subsequent fetal development, especially with respect to brain development, were studied in a new animal model. The rabbit was chosen since it has a perinatal pattern of brain development similar to that of the human. Experimental ischemia was induced during the last trimester by ligation of spiral arterioles and the differential effects on fetal development at term (30th gestational day) are reported. Specific brain regions were examined for wet weight, total cell number (DNA) and total protein content. Highly significant decreases in all these parameters were found in both the cortex and cerebellum following experimental intrauterine growth retardation; these two organs were differentially affected. The prospects and advantages of using this animal model for the study of the postnatal "catch-up growth" are discussed.

  20. A statistical method for 2D facial landmarking

    NARCIS (Netherlands)

    Dibeklioğlu, H.; Salah, A.A.; Gevers, T.

    2012-01-01

    Many facial-analysis approaches rely on robust and accurate automatic facial landmarking to correctly function. In this paper, we describe a statistical method for automatic facial-landmark localization. Our landmarking relies on a parsimonious mixture model of Gabor wavelet features, computed in

  1. Valproic Acid Promotes Survival of Facial Motor Neurons in Adult Rats After Facial Nerve Transection: a Pilot Study.

    Science.gov (United States)

    Zhang, Lili; Fan, Zhaomin; Han, Yuechen; Xu, Lei; Liu, Wenwen; Bai, Xiaohui; Zhou, Meijuan; Li, Jianfeng; Wang, Haibo

    2018-04-01

    Valproic acid (VPA), a medication primarily used to treat epilepsy and bipolar disorder, has been applied to the repair of central and peripheral nervous system injury. The present study investigated the effect of VPA on functional recovery, survival of facial motor neurons (FMNs), and expression of proteins in rats after facial nerve trunk transection by functional measurement, Nissl staining, TUNEL, immunofluorescence, and Western blot. Following facial nerve injury, all rats in group VPA showed a better functional recovery, which was significant at the given time, compared with group NS. The Nissl staining results demonstrated that the number of FMNs survival in group VPA was higher than that in group normal saline (NS). TUNEL staining showed that axonal injury of facial nerve could lead to neuronal apoptosis of FMNs. But treatment of VPA significantly reduced cell apoptosis by decreasing the expression of Bax protein and increased neuronal survival by upregulating the level of brain-derived neurotrophic factor (BDNF) and growth associated protein-43 (GAP-43) expression in injured FMNs compared with group NS. Overall, our findings suggest that VPA may advance functional recovery, reduce lesion-induced apoptosis, and promote neuron survival after facial nerve transection in rats. This study provides an experimental evidence for better understanding the mechanism of injury and repair of peripheral facial paralysis.

  2. Facial Nerve Trauma: Evaluation and Considerations in Management

    OpenAIRE

    Gordin, Eli; Lee, Thomas S.; Ducic, Yadranko; Arnaoutakis, Demetri

    2014-01-01

    The management of facial paralysis continues to evolve. Understanding the facial nerve anatomy and the different methods of evaluating the degree of facial nerve injury are crucial for successful management. When the facial nerve is transected, direct coaptation leads to the best outcome, followed by interpositional nerve grafting. In cases where motor end plates are still intact but a primary repair or graft is not feasible, a nerve transfer should be employed. When complete muscle atrophy h...

  3. Delayed facial nerve decompression for Bell's palsy.

    Science.gov (United States)

    Kim, Sang Hoon; Jung, Junyang; Lee, Jong Ha; Byun, Jae Yong; Park, Moon Suh; Yeo, Seung Geun

    2016-07-01

    Incomplete recovery of facial motor function continues to be long-term sequelae in some patients with Bell's palsy. The purpose of this study was to investigate the efficacy of transmastoid facial nerve decompression after steroid and antiviral treatment in patients with late stage Bell's palsy. Twelve patients underwent surgical decompression for Bell's palsy 21-70 days after onset, whereas 22 patients were followed up after steroid and antiviral therapy without decompression. Surgical criteria included greater than 90 % degeneration on electroneuronography and no voluntary electromyography potentials. This study was a retrospective study of electrodiagnostic data and medical chart review between 2006 and 2013. Recovery from facial palsy was assessed using the House-Brackmann grading system. Final recovery rate did not differ significantly in the two groups; however, all patients in the decompression group recovered to at least House-Brackmann grade III at final follow-up. Although postoperative hearing threshold was increased in both groups, there was no significant between group difference in hearing threshold. Transmastoid decompression of the facial nerve in patients with severe late stage Bell's palsy at risk for a poor facial nerve outcome reduced severe complications of facial palsy with minimal morbidity.

  4. Facial biometrics of peri-oral changes in Crohn's disease.

    Science.gov (United States)

    Zou, L; Adegun, O K; Willis, A; Fortune, Farida

    2014-05-01

    Crohn's disease is a chronic relapsing and remitting inflammatory condition which affects any part of the gastrointestinal tract. In the oro-facial region, patients can present peri-oral swellings which results in severe facial disfigurement. To date, assessing the degree of facial changes and evaluation of treatment outcomes relies on clinical observation and semi-quantitative methods. In this paper, we describe the development of a robust and reproducible measurement strategy using 3-D facial biometrics to objectively quantify the extent and progression of oro-facial Crohn's disease. Using facial laser scanning, 32 serial images from 13 Crohn's patients attending the Oral Medicine clinic were acquired during relapse, remission, and post-treatment phases. Utilising theories of coordinate metrology, the facial images were subjected to registration, regions of interest identification, and reproducible repositioning prior to obtaining volume measurements. To quantify the changes in tissue volume, scan images from consecutive appointments were compared to the baseline (first scan image). Reproducibility test was performed to ascertain the degree of uncertainty in volume measurements. 3-D facial biometric imaging is a reliable method to identify and quantify peri-oral swelling in Crohn's patients. Comparison of facial scan images at different phases of the disease revealed precisely profile and volume changes. The volume measurements were highly reproducible as adjudged from the 1% standard deviation. 3-D facial biometrics measurements in Crohn's patients with oro-facial involvement offers a quick, robust, economical and objective approach for guided therapeutic intervention and routine assessment of treatment efficacy on the clinic.

  5. Ethnic differences in the structural properties of facial skin.

    Science.gov (United States)

    Sugiyama-Nakagiri, Yoriko; Sugata, Keiichi; Hachiya, Akira; Osanai, Osamu; Ohuchi, Atsushi; Kitahara, Takashi

    2009-02-01

    Conspicuous facial pores are one type of serious aesthetic defects for many women. However, the mechanism(s) that underlie the conspicuousness of facial pores remains unclear. We previously characterized the epidermal architecture around facial pores that correlated with the appearance of those pores. A survey was carried out to elucidate ethnic-dependent differences in facial pore size and in epidermal architecture. The subjects included 80 healthy women (aged 30-39: Caucasians, Asians, Hispanics and African Americans) living in Dallas in the USA. First, surface replicas were collected to compare pore sizes of cheek skin. Second, horizontal cross-sectioned images from cheek skin were obtained non-invasively from the same subjects using in vivo confocal laser scanning microscopy (CLSM) and the severity of impairment of epidermal architecture around facial pores was determined. Finally, to compare racial differences in the architecture of the interfollicular epidermis of facial cheek skin, horizontal cross-sectioned images were obtained and the numbers of dermal papillae were counted. Asians had the smallest pore areas compared with other racial groups. Regarding the epidermal architecture around facial pores, all ethnic groups observed in this study had similar morphological features and African Americans showed substantially more severe impairment of architecture around facial pores than any other racial group. In addition, significant differences were observed in the architecture of the interfollicular epidermis between ethnic groups. These results suggest that facial pore size, the epidermal architecture around facial pores and the architecture of the interfollicular epidermis differ between ethnic groups. This might affect the appearance of facial pores.

  6. Mirroring Facial Expressions and Emotions in Dyadic Conversations

    DEFF Research Database (Denmark)

    Navarretta, Costanza

    2016-01-01

    This paper presents an investigation of mirroring facial expressions and the emotions which they convey in dyadic naturally occurring first encounters. Mirroring facial expressions are a common phenomenon in face-to-face interactions, and they are due to the mirror neuron system which has been...... and overlapping facial expressions are very frequent. In this study, we want to determine whether the overlapping facial expressions are mirrored or are otherwise correlated in the encounters, and to what extent mirroring facial expressions convey the same emotion. The results of our study show that the majority...... of smiles and laughs, and one fifth of the occurrences of raised eyebrows are mirrored in the data. Moreover some facial traits in co-occurring expressions co-occur more often than it would be expected by chance. Finally, amusement, and to a lesser extent friendliness, are often emotions shared by both...

  7. Retarded Boson–Fermion interaction in atomic systems

    Indian Academy of Sciences (India)

    WINTEC

    The retardation effect arises from the finite speed of light, and the fact that a virtual photon is always in transit. By separating the center of mass motion, a wave equa- tion that looks like the effective equation for only one spin-1/2 fermion is derived in §3. The retardation ef- fect can now be calculated to all orders. Separation ...

  8. Nonstatic one-boson-exchange potential with retardation

    International Nuclear Information System (INIS)

    Obinata, Toshio; Wada, Masanobu

    1975-01-01

    A one-boson-exchange potential (OBEP) with retardation represented in coordinate space is proposed, that produces a good fit to the experimental data such as the nuclear phase shifts, the deuteron properties and two-nucleon low-energy parameters. In addition to the scalar sigma 0 and Δ mesons, the well-established π, eta, ω and rho mesons have been exchanged in our OBEP. In the core region the hard core, Gaussian soft core and velocity-dependent core potentials are adopted. The characteristics of the retardation are discussed in detail as compared with those given in momentum space calculations. The OBEP's with and without retardation reproduce essentially the same phase shifts in spite of very different potential shapes, in particular in the central-to-tensor ratio. (auth.)

  9. Delineation of facial archetypes by 3d averaging.

    Science.gov (United States)

    Shaweesh, Ashraf I; Thomas, C David L; Bankier, Agnes; Clement, John G

    2004-10-01

    The objective of this study was to investigate the feasibility of creating archetypal 3D faces through computerized 3D facial averaging. A 3D surface scanner Fiore and its software were used to acquire the 3D scans of the faces while 3D Rugle3 and locally-developed software generated the holistic facial averages. 3D facial averages were created from two ethnic groups; European and Japanese and from children with three previous genetic disorders; Williams syndrome, achondroplasia and Sotos syndrome as well as the normal control group. The method included averaging the corresponding depth (z) coordinates of the 3D facial scans. Compared with other face averaging techniques there was not any warping or filling in the spaces by interpolation; however, this facial average lacked colour information. The results showed that as few as 14 faces were sufficient to create an archetypal facial average. In turn this would make it practical to use face averaging as an identification tool in cases where it would be difficult to recruit a larger number of participants. In generating the average, correcting for size differences among faces was shown to adjust the average outlines of the facial features. It is assumed that 3D facial averaging would help in the identification of the ethnic status of persons whose identity may not be known with certainty. In clinical medicine, it would have a great potential for the diagnosis of syndromes with distinctive facial features. The system would also assist in the education of clinicians in the recognition and identification of such syndromes.

  10. Sad Facial Expressions Increase Choice Blindness

    Directory of Open Access Journals (Sweden)

    Yajie Wang

    2018-01-01

    Full Text Available Previous studies have discovered a fascinating phenomenon known as choice blindness—individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1 and faces with happy and neutral expressions (Experiment 2 in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral expressions also tended to show a lower detection rate of sad (as compared to neutral faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions.

  11. Sad Facial Expressions Increase Choice Blindness.

    Science.gov (United States)

    Wang, Yajie; Zhao, Song; Zhang, Zhijie; Feng, Wenfeng

    2017-01-01

    Previous studies have discovered a fascinating phenomenon known as choice blindness-individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1) and faces with happy and neutral expressions (Experiment 2) in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral) expressions also tended to show a lower detection rate of sad (as compared to neutral) faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions).

  12. Piagetian Object Permanence in Severely Mentally Retarded Adults.

    Science.gov (United States)

    Brekke, Beverly; And Others

    The measurability of sensorimotor development in 60 severely retarded, institutionalized adults was studied, using the Piagetian concept of object permanence in a delayed recall paradigm that involved special apparatus. Results suggested, among other things, that severely retarded, institutionalized adults learn most efficiently when trained with…

  13. BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    Science.gov (United States)

    Hög, Friederike; Dentici, Maria Lisa; Tan, Perciliz L.; Sowada, Nadine; Medeira, Ana; Gueneau, Lucie; Thiele, Holger; Kousi, Maria; Lepri, Francesca; Wenzeck, Larissa; Blumenthal, Ian; Radicioni, Antonio; Schwarzenberg, Tito Livio; Mandriani, Barbara; Fischetto, Rita; Morris-Rosendahl, Deborah J.; Altmüller, Janine; Reymond, Alexandre; Nürnberg, Peter; Merla, Giuseppe; Dallapiccola, Bruno; Katsanis, Nicholas; Cramer, Patrick; Kubisch, Christian

    2015-01-01

    RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRNA processing factors cause neurogenetic disorders in humans, such as hypomyelinating leukodystrophies and pontocerebellar hypoplasia. Here we describe an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Whole-exome sequencing revealed biallelic missense alterations of BRF1 in three families. In support of the pathogenic potential of the discovered alleles, suppression or CRISPR-mediated deletion of brf1 in zebrafish embryos recapitulated key neurodevelopmental phenotypes; in vivo complementation showed all four candidate mutations to be pathogenic in an apparent isoform-specific context. BRF1 associates with BDP1 and TBP to form the transcription factor IIIB (TFIIIB), which recruits Pol III to target genes. We show that disease-causing mutations reduce Brf1 occupancy at tRNA target genes in Saccharomyces cerevisiae and impair cell growth. Moreover, BRF1 mutations reduce Pol III–related transcription activity in vitro. Taken together, our data show that BRF1 mutations that reduce protein activity cause neurodevelopmental anomalies, suggesting that BRF1-mediated Pol III transcription is required for normal cerebellar and cognitive development. PMID:25561519

  14. Adaptive evolution of facial colour patterns in Neotropical primates.

    Science.gov (United States)

    Santana, Sharlene E; Lynch Alfaro, Jessica; Alfaro, Michael E

    2012-06-07

    The rich diversity of primate faces has interested naturalists for over a century. Researchers have long proposed that social behaviours have shaped the evolution of primate facial diversity. However, the primate face constitutes a unique structure where the diverse and potentially competing functions of communication, ecology and physiology intersect, and the major determinants of facial diversity remain poorly understood. Here, we provide the first evidence for an adaptive role of facial colour patterns and pigmentation within Neotropical primates. Consistent with the hypothesis that facial patterns function in communication and species recognition, we find that species living in smaller groups and in sympatry with a higher number of congener species have evolved more complex patterns of facial colour. The evolution of facial pigmentation and hair length is linked to ecological factors, and ecogeographical rules related to UV radiation and thermoregulation are met by some facial regions. Our results demonstrate the interaction of behavioural and ecological factors in shaping one of the most outstanding facial diversities of any mammalian lineage.

  15. Análisis facial en ortodoncia

    OpenAIRE

    Mendoza Corbetto, Marco

    2004-01-01

    Las consideraciones sobre estética facial han sido conceptos inseparables de los principios y de la práctica de la ortodoncia y hoy en día se hace necesario enfatizar la importancia del análisis facial como examen complementario indispensable para el diagnóstico y planeamiento ortodóntico, resaltando que la mejora de la morfología facial debe ser el objetivo del tratamiento de las maloclusion es. Según Baldwin 5 el paciente busca en un tratamiento ortodóntico la ...

  16. Heartbeat Rate Measurement from Facial Video

    DEFF Research Database (Denmark)

    Haque, Mohammad Ahsanul; Irani, Ramin; Nasrollahi, Kamal

    2016-01-01

    Heartbeat Rate (HR) reveals a person’s health condition. This paper presents an effective system for measuring HR from facial videos acquired in a more realistic environment than the testing environment of current systems. The proposed method utilizes a facial feature point tracking method...... by combining a ‘Good feature to track’ and a ‘Supervised descent method’ in order to overcome the limitations of currently available facial video based HR measuring systems. Such limitations include, e.g., unrealistic restriction of the subject’s movement and artificial lighting during data capture. A face...

  17. Total Facial Nerve Decompression for Severe Traumatic Facial Nerve Paralysis: A Review of 10 Cases

    Directory of Open Access Journals (Sweden)

    Sertac Yetiser

    2012-01-01

    Full Text Available Management of traumatic facial nerve disorders is challenging. Facial nerve decompression is indicated if 90–95% loss of function is seen at the very early period on ENoG or if there is axonal degeneration on EMG lately with no sign of recovery. Middle cranial or translabyrinthine approach is selected depending on hearing. The aim of this study is to present retrospective review of 10 patients with sudden onset complete facial paralysis after trauma who underwent total facial nerve decompression. Operation time after injury is ranging between 16 and105 days. Excitation threshold, supramaximal stimulation, and amplitude on the paralytic side were worse than at least %85 of the healthy side. Six of 11 patients had HBG-II, one patient had HBG-I, 3 patients had HBG-III, and one patient had HBG-IV recovery. Stretch, compression injuries with disruption of the endoneurial tubules undetectable at the time of surgery and lack of timely decompression may be associated with suboptimal results in our series.

  18. Dermatological Feasibility of Multimodal Facial Color Imaging Modality for Cross-Evaluation of Facial Actinic Keratosis

    Science.gov (United States)

    Bae, Youngwoo; Son, Taeyoon; Nelson, J. Stuart; Kim, Jae-Hong; Choi, Eung Ho; Jung, Byungjo

    2010-01-01

    Background/Purpose Digital color image analysis is currently considered as a routine procedure in dermatology. In our previous study, a multimodal facial color imaging modality (MFCIM), which provides a conventional, parallel- and cross-polarization, and fluorescent color image, was introduced for objective evaluation of various facial skin lesions. This study introduces a commercial version of MFCIM, DermaVision-PRO, for routine clinical use in dermatology and demonstrates its dermatological feasibility for cross-evaluation of skin lesions. Methods/Results Sample images of subjects with actinic keratosis or non-melanoma skin cancers were obtained at four different imaging modes. Various image analysis methods were applied to cross-evaluate the skin lesion and, finally, extract valuable diagnostic information. DermaVision-PRO is potentially a useful tool as an objective macroscopic imaging modality for quick prescreening and cross-evaluation of facial skin lesions. Conclusion DermaVision-PRO may be utilized as a useful tool for cross-evaluation of widely distributed facial skin lesions and an efficient database management of patient information. PMID:20923462

  19. People with chronic facial pain perform worse than controls at a facial emotion recognition task, but it is not all about the emotion.

    Science.gov (United States)

    von Piekartz, H; Wallwork, S B; Mohr, G; Butler, D S; Moseley, G L

    2015-04-01

    Alexithymia, or a lack of emotional awareness, is prevalent in some chronic pain conditions and has been linked to poor recognition of others' emotions. Recognising others' emotions from their facial expression involves both emotional and motor processing, but the possible contribution of motor disruption has not been considered. It is possible that poor performance on emotional recognition tasks could reflect problems with emotional processing, motor processing or both. We hypothesised that people with chronic facial pain would be less accurate in recognising others' emotions from facial expressions, would be less accurate in a motor imagery task involving the face, and that performance on both tasks would be positively related. A convenience sample of 19 people (15 females) with chronic facial pain and 19 gender-matched controls participated. They undertook two tasks; in the first task, they identified the facial emotion presented in a photograph. In the second, they identified whether the person in the image had a facial feature pointed towards their left or right side, a well-recognised paradigm to induce implicit motor imagery. People with chronic facial pain performed worse than controls at both tasks (Facially Expressed Emotion Labelling (FEEL) task P facial pain were worse than controls at both the FEEL emotion recognition task and the left/right facial expression task and performance covaried within participants. We propose that disrupted motor processing may underpin or at least contribute to the difficulty that facial pain patients have in emotion recognition and that further research that tests this proposal is warranted. © 2014 John Wiley & Sons Ltd.

  20. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

    DEFF Research Database (Denmark)

    Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle

    2005-01-01

    BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available,...... dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause....

  1. Fears of institutionalized mentally retarded adults.

    Science.gov (United States)

    Sternlicht, M

    1979-01-01

    The patterns of fears of institutionalized mentally retarded adults were studied in a sample of i2 moderately retarded men and women between the ages of 21-49. The direct questioning method was employed. Two interviews were held, two weeks apart; the first interview elicited the Ss' fears, while the second concerned the fears of their friends. A total of 146 responses were obtained, and these were categorized according to the types of fears: supernatural-natural events, animals, physical injury, psychological stress, egocentric responses, and no fears. The Ss displayed a higher percentage of fears in the preoperational stage than in the concrete operational stage. In a comparison of male to female fears, only one category, that of fears of animals, reached significance. The study suggested that the same developmental trend of fears that appears in normal children appears in the retarded as well, and these fears follow Piaget's level of cognitive development, proceeding from egocentric perceptions of causality to realistic cause and effect thinking.

  2. Spontaneous and posed facial expression in Parkinson's disease.

    Science.gov (United States)

    Smith, M C; Smith, M K; Ellgring, H

    1996-09-01

    Spontaneous and posed emotional facial expressions in individuals with Parkinson's disease (PD, n = 12) were compared with those of healthy age-matched controls (n = 12). The intensity and amount of facial expression in PD patients were expected to be reduced for spontaneous but not posed expressions. Emotional stimuli were video clips selected from films, 2-5 min in duration, designed to elicit feelings of happiness, sadness, fear, disgust, or anger. Facial movements were coded using Ekman and Friesen's (1978) Facial Action Coding System (FACS). In addition, participants rated their emotional experience on 9-point Likert scales. The PD group showed significantly less overall facial reactivity than did controls when viewing the films. The predicted Group X Condition (spontaneous vs. posed) interaction effect on smile intensity was found when PD participants with more severe disease were compared with those with milder disease and with controls. In contrast, ratings of emotional experience were similar for both groups. Depression was positively associated with emotion rating but not with measures of facial activity. Spontaneous facial expression appears to be selectively affected in PD, whereas posed expression and emotional experience remain relatively intact.

  3. The difficulties of teacher in teaching geometry for mental retardation students

    Science.gov (United States)

    Shomad, Z. A.; Kusmayadi, T. A.; Riyadi

    2018-03-01

    The purpose of this research is to find out the problems faced by teachers in teaching materials on mental retardation students. It focused on the difficulties faced by the teacher in teaching geometry. A qualitative method with field study approach used in this study. The subjects in this research are the teacher and mild mental retardation students. There are six teachers and six students involve as the subject which is chosen by purposive sampling. The data of this research is the observation and interview against teachers and mental retardation students. The data was analyzed qualitatively with Miles and Huberman steps. The results of this research show that mental retardation students have less attention to the materials, less special books or learning media props, difficult in the set the students, and the difficulty in choosing the material that suits the student needs and the condition of mental retardation students. There's not much pay attention to the children with special need, particularly mental retardation student. Thus, this study can help analyze the difficulties teachers so that learning math for mental retardation students more optimal.

  4. Advances in face detection and facial image analysis

    CERN Document Server

    Celebi, M; Smolka, Bogdan

    2016-01-01

    This book presents the state-of-the-art in face detection and analysis. It outlines new research directions, including in particular psychology-based facial dynamics recognition, aimed at various applications such as behavior analysis, deception detection, and diagnosis of various psychological disorders. Topics of interest include face and facial landmark detection, face recognition, facial expression and emotion analysis, facial dynamics analysis, face classification, identification, and clustering, and gaze direction and head pose estimation, as well as applications of face analysis.

  5. Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

    Science.gov (United States)

    Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

    2010-09-01

    To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

  6. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Mieloo, H.; Syrrou, M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

    2001-01-01

    In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications,

  7. Categorical Perception of Affective and Linguistic Facial Expressions

    Science.gov (United States)

    McCullough, Stephen; Emmorey, Karen

    2009-01-01

    Two experiments investigated categorical perception (CP) effects for affective facial expressions and linguistic facial expressions from American Sign Language (ASL) for Deaf native signers and hearing non-signers. Facial expressions were presented in isolation (Experiment 1) or in an ASL verb context (Experiment 2). Participants performed ABX…

  8. Factors contributing to the adaptation aftereffects of facial expression.

    Science.gov (United States)

    Butler, Andrea; Oruc, Ipek; Fox, Christopher J; Barton, Jason J S

    2008-01-29

    Previous studies have demonstrated the existence of adaptation aftereffects for facial expressions. Here we investigated which aspects of facial stimuli contribute to these aftereffects. In Experiment 1, we examined the role of local adaptation to image elements such as curvature, shape and orientation, independent of expression, by using hybrid faces constructed from either the same or opposing expressions. While hybrid faces made with consistent expressions generated aftereffects as large as those with normal faces, there were no aftereffects from hybrid faces made from different expressions, despite the fact that these contained the same local image elements. In Experiment 2, we examined the role of facial features independent of the normal face configuration by contrasting adaptation with whole faces to adaptation with scrambled faces. We found that scrambled faces also generated significant aftereffects, indicating that expressive features without a normal facial configuration could generate expression aftereffects. In Experiment 3, we examined the role of facial configuration by using schematic faces made from line elements that in isolation do not carry expression-related information (e.g. curved segments and straight lines) but that convey an expression when arranged in a normal facial configuration. We obtained a significant aftereffect for facial configurations but not scrambled configurations of these line elements. We conclude that facial expression aftereffects are not due to local adaptation to image elements but due to high-level adaptation of neural representations that involve both facial features and facial configuration.

  9. Crusted piloleiomyoma with mental retardation: A rare association

    Directory of Open Access Journals (Sweden)

    Kamboj Sangeeta

    2009-01-01

    Full Text Available Piloleiomyoma is an uncommon benign smooth muscle neoplasm arising from arrector pili muscle. It is clinically defined by the presence of solitary or multiple reddish brown, dome-shaped, smooth papules or nodules, ranging in size from a few millimeters to a centimeter. The patients are otherwise healthy; but mental retardation developing in some patients with multiple Piloleiomyomas has been emerging as an intriguing matter for analysis by the scientists. In this case report, a mentally retarded patient with Piloleiomyoma is described, who, besides the characteristic smooth and dome-shaped lesions on the anterolateral aspect of the dorsum of the right foot, had developed crusting on one of the largest lesions. The histopathological features were consistent with Piloleiomyoma. The occurrence of Piloleiomyoma in a mentally retarded child and its unusual crusted nature has been rarely reported. The association between Piloleiomyoma and mental retardation is further stressed in this case report.

  10. Flame Retardant Effect of Nano Fillers on Polydimethylsiloxane Composites.

    Science.gov (United States)

    Jagdale, Pravin; Salimpour, Samera; Islam, Md Hujjatul; Cuttica, Fabio; Hernandez, Francisco C Robles; Tagliaferro, Alberto; Frache, Alberto

    2018-02-01

    Polydimethylsiloxane has exceptional fire retardancy characteristics, which make it a popular polymer in flame retardancy applications. Flame retardancy of polydimethylsiloxane with different nano fillers was studied. Polydimethylsiloxane composite fire property varies because of the shape, size, density, and chemical nature of nano fillers. In house made carbon and bismuth oxide nano fillers were used in polydimethylsiloxane composite. Carbon from biochar (carbonised bamboo) and a carbon by-product (carbon soot) were selected. For comparative study of nano fillers, standard commercial multiwall carbon nano tubes (functionalised, graphitised and pristine) as nano fillers were selected. Nano fillers in polydimethylsiloxane positively affects their fire retardant properties such as total smoke release, peak heat release rate, and time to ignition. Charring and surface ceramization are the main reasons for such improvement. Nano fillers in polydimethylsiloxane may affect the thermal mobility of polymer chains, which can directly affect the time to ignition. The study concludes that the addition of pristine multiwall carbon nano tubes and bismuth oxide nano particles as filler in polydimethylsiloxane composite improves the fire retardant property.

  11. Variant facial artery in the submandibular region.

    Science.gov (United States)

    Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

    2012-07-01

    Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

  12. Unsupervised learning of facial emotion decoding skills.

    Science.gov (United States)

    Huelle, Jan O; Sack, Benjamin; Broer, Katja; Komlewa, Irina; Anders, Silke

    2014-01-01

    Research on the mechanisms underlying human facial emotion recognition has long focussed on genetically determined neural algorithms and often neglected the question of how these algorithms might be tuned by social learning. Here we show that facial emotion decoding skills can be significantly and sustainably improved by practice without an external teaching signal. Participants saw video clips of dynamic facial expressions of five different women and were asked to decide which of four possible emotions (anger, disgust, fear, and sadness) was shown in each clip. Although no external information about the correctness of the participant's response or the sender's true affective state was provided, participants showed a significant increase of facial emotion recognition accuracy both within and across two training sessions two days to several weeks apart. We discuss several similarities and differences between the unsupervised improvement of facial decoding skills observed in the current study, unsupervised perceptual learning of simple stimuli described in previous studies and practice effects often observed in cognitive tasks.

  13. Mothers' pupillary responses to infant facial expressions.

    Science.gov (United States)

    Yrttiaho, Santeri; Niehaus, Dana; Thomas, Eileen; Leppänen, Jukka M

    2017-02-06

    Human parental care relies heavily on the ability to monitor and respond to a child's affective states. The current study examined pupil diameter as a potential physiological index of mothers' affective response to infant facial expressions. Pupillary time-series were measured from 86 mothers of young infants in response to an array of photographic infant faces falling into four emotive categories based on valence (positive vs. negative) and arousal (mild vs. strong). Pupil dilation was highly sensitive to the valence of facial expressions, being larger for negative vs. positive facial expressions. A separate control experiment with luminance-matched non-face stimuli indicated that the valence effect was specific to facial expressions and cannot be explained by luminance confounds. Pupil response was not sensitive to the arousal level of facial expressions. The results show the feasibility of using pupil diameter as a marker of mothers' affective responses to ecologically valid infant stimuli and point to a particularly prompt maternal response to infant distress cues.

  14. Autism and Mental Retardation of Young Children in China

    Institute of Scientific and Technical Information of China (English)

    XIN ZHANG; CHENG-YE JI

    2005-01-01

    Objective To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. Results Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. Conclusions The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.

  15. Facial soft tissue changes after orthodontic treatment | Aksakalli ...

    African Journals Online (AJOL)

    Objectives: To successfully meet expectations on facial esthetics, it is important to understand normal craniofacial growth and the impact of orthodontic treatment thereon. To date, there have been few studies documenting changes in facial esthetics through photography. The objective of this study was to compare facial soft ...

  16. [A text-book case of tropical facial elephantiasis].

    Science.gov (United States)

    Dilu, N-J; Sokolo, R

    2007-02-01

    Tropical facial elephantiasis is a nosological entity which can arise from various underlying causes: von Recklinghausen neurofibromatosis, lymphatic and cutaneodermal filarioses, deep mycosis. We report an exceptional case of tropical facial elephantiasis caused by onchocercosis and entomophtoromycosis (rhinophycomycosis). The patient's facial morphology was noted "hippopotamus-face" or "dog-face". Onchocercosis and entomophtoromycosis are two diseases known to cause facial elephantiasis. We have not however been able to find any case report in the literature of co-morbidity nor any information on factors predictive of concomitant occurrence.

  17. Dynamic facial expression recognition based on geometric and texture features

    Science.gov (United States)

    Li, Ming; Wang, Zengfu

    2018-04-01

    Recently, dynamic facial expression recognition in videos has attracted growing attention. In this paper, we propose a novel dynamic facial expression recognition method by using geometric and texture features. In our system, the facial landmark movements and texture variations upon pairwise images are used to perform the dynamic facial expression recognition tasks. For one facial expression sequence, pairwise images are created between the first frame and each of its subsequent frames. Integration of both geometric and texture features further enhances the representation of the facial expressions. Finally, Support Vector Machine is used for facial expression recognition. Experiments conducted on the extended Cohn-Kanade database show that our proposed method can achieve a competitive performance with other methods.

  18. Some Aspects of Facial Nerve Paralysis

    African Journals Online (AJOL)

    1973-01-20

    Jan 20, 1973 ... the facial nerve has tremendous regenerative ability. The paretic, or flaccid, ... fresh axoplasm moving into it from the cell-body. Only when the axon .... tivity of the ear to sound, homolateral to the facial paralysis. The cause is ...

  19. Iconic Memory Deficit of Mildly Mentally Retarded Individuals.

    Science.gov (United States)

    Hornstein, Henry A.; Mosley, James L.

    1987-01-01

    Ten mildly retarded young adult males and nonretarded subjects matched for chronological age or mental age were required to recognize both verbal and nonverbal stimuli presented tachistoscopically. Results of a backward visual masking paradigm varying stimulus onset asynchrony (SOA) indicated the retarded subjects performed poorer at the longest…

  20. Neural Correlates of Facial Mimicry: Simultaneous Measurements of EMG and BOLD Responses during Perception of Dynamic Compared to Static Facial Expressions

    Science.gov (United States)

    Rymarczyk, Krystyna; Żurawski, Łukasz; Jankowiak-Siuda, Kamila; Szatkowska, Iwona

    2018-01-01

    Facial mimicry (FM) is an automatic response to imitate the facial expressions of others. However, neural correlates of the phenomenon are as yet not well established. We investigated this issue using simultaneously recorded EMG and BOLD signals during perception of dynamic and static emotional facial expressions of happiness and anger. During display presentations, BOLD signals and zygomaticus major (ZM), corrugator supercilii (CS) and orbicularis oculi (OO) EMG responses were recorded simultaneously from 46 healthy individuals. Subjects reacted spontaneously to happy facial expressions with increased EMG activity in ZM and OO muscles and decreased CS activity, which was interpreted as FM. Facial muscle responses correlated with BOLD activity in regions associated with motor simulation of facial expressions [i.e., inferior frontal gyrus, a classical Mirror Neuron System (MNS)]. Further, we also found correlations for regions associated with emotional processing (i.e., insula, part of the extended MNS). It is concluded that FM involves both motor and emotional brain structures, especially during perception of natural emotional expressions. PMID:29467691