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Sample records for hypoplasia facial hypotonia

  1. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

  2. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    International Nuclear Information System (INIS)

    Nishimura, G.; Haga, Yoshihiko; Aoki, Katsuhiko; Hasegawa, Tomoko

    1998-01-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.)

  3. Hypotonia

    Science.gov (United States)

    ... can be a life-long condition. In some cases, however, muscle tone improves over time. Clinical Trials Throughout the U.S. and ... NINDS Publications Definition Hypotonia is a medical term used to describe ...

  4. Genetics Home Reference: pontocerebellar hypoplasia

    Science.gov (United States)

    ... PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and ... InfoSearch: Pontocerebellar hypoplasia type 6 MalaCards: pontocerebellar hypoplasia Neuromuscular Disease Center, Washington University, St. Louis: Pontocerebellar Hypoplasia ...

  5. Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

    Directory of Open Access Journals (Sweden)

    Malvika Gupta

    2014-01-01

    Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

  6. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

    NARCIS (Netherlands)

    Pen, A.E.; Nyegaard, M.; Fang, M.; Jiang, H.; Christensen, R.; Molgaard, H.; Andersen, H.; Ulhoi, B.P.; Ostergaard, J.R.; Vaeth, S.; Sommerlund, M.; Brouwer, A.P.M. de; Zhang, X.; Jensen, U.B.

    2015-01-01

    We describe a Danish family with an, until recently, unknown X-linked disease with muscular dystrophy (MD), facial dysmorphology and pulmonary artery hypoplasia. One patient died suddenly before age 20 and another was resuscitated from cardiac arrest at the age of 28. Linkage analysis pointed to a

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

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    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.

  8. Vermian aplasia and hypoplasia

    International Nuclear Information System (INIS)

    Fitz, C.R.

    1990-01-01

    This paper reports vermian aplasia or hypoplasia unrelated to Dandy-Walker complex or Joubert syndrome. Vermian hypoplasia is most commonly associated with the malformations of Dandy-Walker cyst or variant. There have been few reports of familial vermian anomaly (Joubert syndrome) with episodes of polypnea and apnea. Five patients with vermian hypoplasia or absence were prospectively discovered among 1,130 children undergoing brain MR imaging. Ages ranged from 2 mo to 15 y at the time of discovery: The abnormalities were poorly defined in three patients who had previously undergone CT. There was no common link in these patients with a variable number of other systemic, brain, or facial abnormalities. No unifying symptoms were identified. Two patients had the MR imaging appearance of Joubert syndrome, but none had the cyclical respiratory symptoms usually associated with this syndrome

  9. Cerebellar Hypoplasia

    Science.gov (United States)

    ... hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form ... hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form ...

  10. Hypotonia

    Science.gov (United States)

    ... damage include: Down syndrome Spinal muscular atrophy Prader-Willi syndrome Tay-Sachs disease Trisomy 13 Other disorders ... commercial use must be authorized in writing by ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer ...

  11. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

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    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  12. Focal dermal hypoplasia without focal dermal hypoplasia

    NARCIS (Netherlands)

    Contreras-Capetillo, Silvina N.; Lombardi, Maria Paola; Pinto-Escalante, Doris; Hennekam, Raoul C.

    2014-01-01

    Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome) is an X-linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The

  13. 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.

  14. Double contrast investigation of the stomach in hypotonia

    International Nuclear Information System (INIS)

    Roggensack, H.O.

    1980-01-01

    After two years experience of routine investigation of the stomach in double contrast and hypotonia the advantages of this method and its main field of application are described pertaining to selected cases. (orig.) [de

  15. Cerebral white matter hypoplasia

    International Nuclear Information System (INIS)

    Dietrich, R.B.; Shields, W.D.; Sankar, R.

    1990-01-01

    This paper demonstrates the MR imaging findings in children with cerebral white matter hypoplasia (CWMH). The MR studies of four children, aged 3-7 y (mean age, 2.3 y) with a diagnosis of CWMH were reviewed. In all cases multiplanar T1-weighted and T2-weighted spin-echo images were obtained. All children had similar histories of severe developmental delay and nonprogressive neurologic deficits despite normal gestational and birth histories. In two cases there was a history of maternal cocaine abuse. Autopsy correlation was available in one child. The MR images of all four children demonstrated diffuse lack of white matter and enlarged ventricles but normal-appearing gray matter. The corpus callosum, although completely formed, was severely thinned. There was no evidence of gliosis or porencephaly, and the distribution of myelin deposition was normal for age in all cases. Autopsy finding in one child correlated exactly with the MR finding

  16. Optic nerve hypoplasia

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    Savleen Kaur

    2013-01-01

    Full Text Available Optic nerve hypoplasia (ONH is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65% than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED.

  17. Thyroid hormone resistance may course hypotonia in infancy

    DEFF Research Database (Denmark)

    Pivkovska, Julijana; Born, Alfred Peter; Nielsen, Claus Thøger

    2014-01-01

    Allan Herndon Dudley's syndrome (AHDS) is X-linked mental retardation and hypotonia caused by mutations in a thyroid hormone transporter gene - MCT8. The typical thyreoidea AHDS profile is elevated T3, low-normal T4 and normal or elevated thyroid stimulating hormone (TSH). Neonatal screening...

  18. Genetics Home Reference: focal dermal hypoplasia

    Science.gov (United States)

    ... in people with focal dermal hypoplasia is an omphalocele , which is an opening in the wall of ... Dermal Hypoplasia MedlinePlus Encyclopedia: Ectodermal dysplasia MedlinePlus Encyclopedia: Omphalocele General Information from MedlinePlus (5 links) Diagnostic Tests ...

  19. MR findings in pontocerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M. [Department of Radiology, Division of Paediatric Radiology, University Hospital of Freiburg, Freiburg (Germany); Darge, K. [Department of Paediatric Radiology, Children`s Hospital of the University of Heidelberg, Heidelberg (Germany); Baborie, A. [Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg (Germany); Korinthenberg, R. [Department of Neuropaediatrics, Children`s Hospital, University of Freiburg, Freiburg (Germany)

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to `float` in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.) With 3 figs., 2 tabs., 13 refs.

  20. MR findings in pontocerebellar hypoplasia

    International Nuclear Information System (INIS)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M.; Darge, K.; Baborie, A.; Korinthenberg, R.

    1998-01-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to 'float' in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.)

  1. 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;

  2. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

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    Nagendra Chaudhary

    2017-01-01

    Full Text Available Goldenhar syndrome (GS, a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

  3. 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

  4. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Katorza, Eldad; Nahama-Allouche, Catherine; Ducou le Pointe, Hubert; Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Castaigne, Vanina [Hopital Saint-Antoine, Service de Gynecologie-Obstetrique, Paris (France); Gonzales, Marie; Marlin, Sandrine [Hopital d' Enfants Armand-Trousseau, Service de Genetique et Embryologie medicales, Paris (France); Galliani, Eva [Hopital d' Enfants Armand-Trousseau, Service de Chirurgie maxillo-faciale, Paris (France); Jouannic, Jean-Marie; Rosenblatt, Jonathan [Hopital d' Enfants Armand-Trousseau, Service de Gynecologie-Obstetrique, Centre pluridisciplinaire de diagnostic prenatal, Paris (France)

    2011-05-15

    Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia. (orig.)

  5. MR assessment of fetal pulmonary hypoplasia

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    Kuwashima, Shigeko; Kohno, Atsushi; Saiki, Natoru; Iimura, Fumitoshi; Kohno, Tatsuo; Hashimoto, Teisuke; Fujioka, Mutsuhisa [Dokkyo Univ. School of Medicine, Mibu, Tochigi (Japan)

    2000-08-01

    The purpose of this study is to evaluate pulmonary hypoplasia of the fetus using MRI. The subjects consisted of 36 fetuses (18 to 40 weeks' gestation). All fetuses or mothers had major anomalies diagnosed on fetal ultrasonography. MR imaging was performed with a 1.5-T magnet and HASTE (half-Fourier acquisition single-shot turbo spin-echo) sequence. MR images were evaluated with special attention to the intensity of the lung. A diagnosis of pulmonary hypoplasia was based on the clinical, surgical, and autopsy findings. All fetuses with normal pulmonary development showed high intensity in the lung, while all fetuses with pulmonary hypoplasia showed a low intensity in the lung, obscured pulmonary vessels and a small thorax. There was a close correlation between the lung intensity and pulmonary growth. MR assessment of lung intensity may facilitate the diagnosis of pulmonary hypoplasia, particularly after 26 weeks' gestation. Some of the normally developing lung showed a low intensity from 20 to 24 weeks of gestational age. The change to normal lung intensity may occur during this period. (author)

  6. Genetics Home Reference: Leydig cell hypoplasia

    Science.gov (United States)

    ... normal male sexual development before birth and during puberty. In Leydig cell hypoplasia , affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the ...

  7. Focal dermal hypoplasia: A rare case report

    Directory of Open Access Journals (Sweden)

    Sahana M Srinivas

    2015-01-01

    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

  8. Tooth enamel hypoplasia in PHACE syndrome.

    Science.gov (United States)

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age. © 2014 Wiley Periodicals, Inc.

  9. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

    Science.gov (United States)

    Xia, Fan; Bainbridge, Matthew N.; Tan, Tiong Yang; Wangler, Michael F.; Scheuerle, Angela E.; Zackai, Elaine H.; Harr, Margaret H.; Sutton, V. Reid; Nalam, Roopa L.; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M.; Yaplito-Lee, Joy; Hunter, Jill V.; Deardorff, Matthew A.; Penney, Samantha J.; Beaudet, Arthur L.; Plon, Sharon E.; Boerwinkle, Eric A.; Lupski, James R.; Eng, Christine M.; Muzny, Donna M.; Yang, Yaping; Gibbs, Richard A.

    2014-01-01

    Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 “known” disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. PMID:24791903

  10. 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, ...

  11. Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

    Science.gov (United States)

    Yamanaka, S; Nakao, Kazumasa; Koyama, N; Isobe, Y; Ueda, Y; Kanai, Y; Kondo, E; Fujii, T; Miura, M; Yasoda, A; Nakao, Kazuwa; Bessho, K

    2017-12-01

    Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3 ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP on the maxillofacial area in these animals. Fgfr3 ach mice exhibited midfacial hypoplasia, especially in the sagittal direction, caused by impaired endochondral ossification in craniofacial cartilage and by premature closure of the spheno-occipital synchondrosis, an important growth center in craniomaxillofacial skeletogenesis. We crossed Fgfr3 ach mice with transgenic mice in which CNP is expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP ( Fgfr3 ach /SAP-Nppc-Tg mice). In the progeny, midfacial hypoplasia in the sagittal direction observed in Fgfr3 ach mice was improved significantly by restoring the thickness of synchondrosis and promoting proliferation of chondrocytes in the craniofacial cartilage. In addition, the foramen magnum stenosis observed in Fgfr3 ach mice was significantly ameliorated in Fgfr3 ach /SAP-Nppc-Tg mice due to enhanced endochondral bone growth of the anterior intraoccipital synchondrosis. These results clearly demonstrate the therapeutic

  12. Causes of congenital unilateral pulmonary hypoplasia

    International Nuclear Information System (INIS)

    Currarino, G.; Williams, B.; Children's Medical Center, Dallas, TX

    1985-01-01

    A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

  13. Glenoid hypoplasia: a report of 2 patients.

    Science.gov (United States)

    Lynch, Christopher J; Taylor, John A M; Buchberger, Dale J

    2008-06-01

    This article discusses the imaging findings, clinical findings, and conservative chiropractic management of 2 patients with glenoid hypoplasia. Conventional radiographs of both patients revealed a hypoplastic glenoid bilaterally. Notch-like defects along with signs of degenerative disease were evident within the lower portion of the glenoid rims bilaterally in 1 patient and in the left glenoid rim of the other patient. Magnetic resonance imaging revealed a degenerative cyst or cortical defect in one patient along the anterior humeral head. The second patient showed a small slightly lobulated cystic region just posterior to the glenoid rim, consistent with the appearance of a synovial or ganglion cyst. Computed tomography with 3-dimensional reconstruction in 1 patient confirmed the presence of large posterior and superior osteophytes arising from the significantly hypoplastic glenoid. These images also revealed a slight posterior subluxation of the humeral head, widening of the anterior glenohumeral joint space, and retroversion of the glenoid. Treatment consisted of manual joint manipulation, soft tissue therapies, and therapeutic exercise for both patients. Both patients experienced improvements in symptoms, function, and physical examination findings. Glenoid hypoplasia is a developmental anomaly of the scapular neck which is predominantly bilateral and symmetric. Cross-sectional imaging studies should be considered in patients with symptoms that fail to improve over time. Conservative chiropractic care may be effective in managing symptoms in patients with glenoid hypoplasia.

  14. Method for imaging pulmonary arterial hypoplasia

    International Nuclear Information System (INIS)

    Triantafillou, M.

    2000-01-01

    Full text: Pulmonary hypoplasia represents an incomplete development of the lung, resulting in the reduction of distended lung volume. This is associated with small or absent number of airway divisions, alveoli, arteries and veins. Unilateral pulmonary Hypoplasia is often asymptomatic and may be demonstrated as a hypodense lung on a chest X-ray. Computer Tomography (CT) scanning would show anatomical detail and proximal vessels. Magnetic Resonance Imaging (MRI) will show no more detail than which the CT scan has already demonstrated. It is, also, difficult to visualise collateral vessels from systemic and/or bronchial vessels on both these modalities. Pulmonary Angiography would give the definitive answer, but it is time consuming and has significant risks associated with the procedure. There are high costs associated with these modalities. Nuclear Medicine Ventilation/Perfusion (V/Q) scan performed on these patients would demonstrate diminished ventilation due to reduced lung volume and absence of perfusion to the hypoplastic lung. To date, we have performed V/Q lung scan on two children in our department. Both cases demonstrate diminished ventilation with no perfusion to the hypoplastic lung. Though the gold standard is Pulmonary Angiography, V/Q scanning is cost effective, less time consuming and a non invasive procedure that can be performed as an outpatient. It is accurate as it demonstrates absent lung perfusion, confirming the patient has pulmonary arterial hypoplasia. Copyright (2000) The Australian and New Zealand Society of Nuclear Medicine Inc

  15. Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

    Science.gov (United States)

    Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

    2014-02-01

    Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

  16. 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.

  17. Pontoneocerebellar hypoplasia: definition of MR features

    International Nuclear Information System (INIS)

    Goasdoue, P.; Lalande, G.; Adamsbaum, C.; Rodriguez, D.; Moutard, M.-L.; Robain, O.

    2001-01-01

    We report five patients with pontoneocerebellar hypoplasia. Because the issue of cerebellar malformations is a difficult subject, we tried to define criteria for diagnosis on MRI: a thin flat pons with disappearance of the anterior curve, a small cerebellum with predominant flattening of the hemispheres and shortened cerebellar fissures, in contrast to atrophy. The posterior fossa is not enlarged. We emphasize the probable late onset of the disease in fetal life because of the demonstration of the abnormalities at US during the last trimester of the pregnancy in one patient. Prenatal diagnosis is important because of possible autosomal recessive transmission. (orig.)

  18. Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

    Science.gov (United States)

    Helbig, K L; Mroske, C; Moorthy, D; Sajan, S A; Velinov, M

    2017-10-01

    DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine-nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization. Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. We report 2 siblings with biallelic loss-of-function variants in DOCK3. Diagnostic whole-exome sequencing (WES) and chromosomal microarray were performed on a proband with severe developmental disability, hypotonia, and ataxic gait. Testing was also performed on the proband's similarly affected brother. A paternally inherited 458 kb deletion in chromosomal region 3p21.2 disrupting the DOCK3 gene was identified in both affected siblings. WES identified a nonsense variant c.382C>G (p.Gln128*) in the DOCK3 gene (NM_004947) on the maternal allele in both siblings. Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    OpenAIRE

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

  20. Pediatric Obstructive Sleep Apnea and the critical role of oral-facial growth: evidences

    Directory of Open Access Journals (Sweden)

    Christian eGuilleminault

    2013-01-01

    Full Text Available Aims: Review of evidence in support of an oral-facial growth impairment in the development of pediatric sleep apnea in non-obese childrenMethod: Review of experimental data from infant monkeys with experimentally induced nasal resistance. Review of early historical data in the orthodontic literature indicating the abnormal oral-facial development associated with mouth breathing and nasal resistance. Review of the progressive demonstration of sleep disordered breathing in children who underwent incomplete treatment of OSA with adenotonsillectomy, and demonstration of abnormal oral-facial anatomy that must often to be treated in order for the resolution of OSA. Review of long term recurrence data on OSA and indication of oral-facial myofunctional dysfunction in association with the recurrence of OSA. Results: Presentation of prospective data on premature infants and sleep-disordered-breathing (SDB-treated children, supporting the concept of oral-facial hypotonia. Presentation of evidence supporting hypotonia as a primary element in the development of oral-facial anatomic abnormalities leading to abnormal breathing during sleep. Continuous interaction between oral facial muscle tone, maxillary-mandibular growth and development of SDB. Role of myofunctional re-education with orthodontics and elimination of upper airway soft tissue in the treatment of non-obese SDB children. Conclusion: Pediatric OSA in non-obese children is a disorder of oral facial growth.

  1. Pediatric obstructive sleep apnea and the critical role of oral-facial growth: evidences.

    Science.gov (United States)

    Huang, Yu-Shu; Guilleminault, Christian

    2012-01-01

    Review of evidence in support of an oral-facial growth impairment in the development of pediatric sleep apnea in non-obese children. Review of experimental data from infant monkeys with experimentally induced nasal resistance. Review of early historical data in the orthodontic literature indicating the abnormal oral-facial development associated with mouth breathing and nasal resistance. Review of the progressive demonstration of sleep-disordered-breathing (SDB) in children who underwent incomplete treatment of OSA with adenotonsillectomy, and demonstration of abnormal oral-facial anatomy that must often be treated in order for the resolution of OSA. Review of data of long-term recurrence of OSA and indication of oral-facial myofunctional dysfunction in association with the recurrence of OSA. Presentation of prospective data on premature infants and SDB-treated children, supporting the concept of oral-facial hypotonia. Presentation of evidence supporting hypotonia as a primary element in the development of oral-facial anatomic abnormalities leading to abnormal breathing during sleep. Continuous interaction between oral-facial muscle tone, maxillary-mandibular growth and development of SDB. Role of myofunctional reeducation with orthodontics and elimination of upper airway soft tissue in the treatment of non-obese SDB children. Pediatric OSA in non-obese children is a disorder of oral-facial growth.

  2. Brain stem hypoplasia associated with Cri-du-Chat syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu [Dept. of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon (Korea, Republic of)

    2013-12-15

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  3. The radiological features of Goltz syndrome: Focal dermal hypoplasia

    International Nuclear Information System (INIS)

    Boothyrod, A.E.; Hall, C.M.

    1988-01-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG)

  4. [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.

  5. Trans-sinusal maxillary distraction for correction of midfacial hypoplasia: long-term clinical results.

    Science.gov (United States)

    Nadjmi, N; Schutyser, F; Van Erum, R

    2006-10-01

    Maxillary distraction osteogenesis is indicated in severe angle class III malocclusions, and severe maxillary hypoplasia among some cleft patients and other craniofacial deformities. Twenty patients, aged 8-48 years (mean 17.8+/-10.5 SD) with maxillary and midfacial hypoplasia were treated. The follow-up period was 13-65 months (mean 35+/-16.3 SD). A trans-sinusal maxillary distractor was placed intraorally at each side of the maxilla. The distraction vector was predicted using specialist software, and was transferred to the patients using stereolithographic models and individual templates. A (high) Le Fort I type osteotomy was performed. The amount of activation varied from 8 to 17.5 mm (mean 13.1+/-2.9 SD). Soft and hard tissue formation resulted in complete healing across the distraction gaps. The distractors are almost completely submerged, and can be left in place as long as necessary to avoid relapse. Wit's appraisal was used to measure the stability of the long-term distraction results. Results up to 5 years after distraction showed considerable maxillary advancement with long-term stability. Ongoing growth of the facial skeleton must be considered when distraction osteogenesis is chosen in growing patients.

  6. Pontocerebellar hypoplasia associated with respiratory-chain defects

    NARCIS (Netherlands)

    de Koning, T. J.; de Vries, L. S.; Groenendaal, F.; Ruitenbeek, W.; Jansen, G. H.; Poll-The, B. T.; Barth, P. G.

    1999-01-01

    Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of

  7. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    Science.gov (United States)

    ... hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the ... the United States. This condition has also been reported in families from Iran and Turkey. Related Information ...

  8. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    Science.gov (United States)

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed.

  9. 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 ...

  10. 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.

  11. Correlation study regarding the pelvic floor hypotonia in relation to labour, age and number of births

    Directory of Open Access Journals (Sweden)

    Doriana Ioana CIOBANU

    2017-03-01

    Full Text Available Background. During pregnancy, there is an increased pressure on pelvic floor. During labour and delivery the pelvic floor is stretched and can be damaged, leading to urine leakage, mostly during laughing, sneezing, coughing, running. This condition is called urinary incontinence. Aim. This paperwork aims to emphasize if there is a significant correlation between labor parameters, age, number of deliveries and the presence of pelvic floor hypotonia and urinary incontinence in women, after delivery. Material and method. Study was made on 24 women in the first days after delivery, ages between 21- 42 years old. 66,7% are primiparous, 33,3% are multiparous. As the assessment tools were used: stop urine test, number of perineal muscle contractions, questionnaire regarding the presence of urge urinary incontinence. Results. From the total number of subjects, 33.3% have stress incontinence and 29.2% have urge incontinence. There is a significant correlation between the presence of urinary incontinence and living environment [p = 0,014, (df. = 1], smoking [p = 0,014], the onset of labor [p = 0,014], administration of antispaspasmodic medication in labor [p = 0,010], administration of antialgic medication [p = 0,014] and the duration of delivery period [p = 0,028]. Conclusions. From the 24 subjects, 62,5% of them have urinary incontinence after labor and delivery. From these, 33.3% have stress incontinence, and 29.2% have urge incontinence. After labor and delivery more affected are fast fibers of perineal muscles, responsible withholding the urine during coughing, sneezing, lifting objects, going upstairs, as well as withholding the urine in case of overflow bladder. After labor and delivery, most women have hypotonia of perineal muscles.

  12. Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    Directory of Open Access Journals (Sweden)

    Stefan Gysin

    2015-05-01

    Full Text Available Focal dermal hypoplasia (FDH is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962 suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH.

  13. 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.

  14. 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.

  15. Biliary atresia and cerebellar hypoplasia in polysplenia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Vanderdood, Kurt; Op de Beeck, Bart; Desprechins, Brigitte; Osteaux, Michel [Department of Radiology, Free University Brussels, AZ-VUB, Laarbeeklaan 101, 1090 Brussels (Belgium)

    2003-09-01

    We report a 3.5-month-old boy with polysplenia syndrome who demonstrated hemiazygos continuation of the inferior vena cava, extrahepatic biliary atresia, multiple splenunculi, bowel malrotation, and the rare finding of brainstem and cerebellar hypoplasia. A possible pathogenesis for cerebellar hypoplasia in this syndrome is suggested after review of the literature. The importance of seeking associated anomalies in biliary atresia, which may be possible indicators of polysplenia syndrome, is stressed since these patients need appropriate management when surgery is considered. (orig.)

  16. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    Directory of Open Access Journals (Sweden)

    Mohammad K. Eldomery

    2016-11-01

    Full Text Available Abstract Background Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. Methods Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC, developmental delay (DD, seizures, and severe hypotonia. Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. Functional analysis of the identified MIP variants was performed using the model organism Saccharomyces cerevisiae as the protein and its functions are highly conserved from yeast to human. Results Biallelic single nucleotide variants (SNVs or copy number variants (CNVs in MIPEP, which encodes MIP, were present in all four probands, three of whom had infantile/childhood death. Two patients had compound heterozygous SNVs (p.L582R/p.L71Q and p.E602*/p.L306F and one patient from a consanguineous family had a homozygous SNV (p.K343E. The fourth patient, identified through the GeneMatcher tool, a part of the Matchmaker Exchange Project, was found to have inherited a paternal SNV (p.H512D and a maternal CNV (1.4-Mb deletion of 13q12.12 that includes MIPEP. All amino acids affected in the patients’ missense variants are highly conserved from yeast to human and therefore S. cerevisiae was employed for functional analysis (for p.L71Q, p.L306F, and p.K343E. The mutations p.L339F (human p.L306F and p.K376E (human p.K343E resulted in a severe decrease of Oct1 protease activity and accumulation of non-processed Oct1 substrates and consequently impaired viability under respiratory growth conditions. The p.L83Q (human p.L71Q failed to localize to the mitochondria. Conclusions Our findings reveal for the first

  17. 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 ...

  18. 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 ...

  19. 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.

  20. PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

    Science.gov (United States)

    Proskorovski-Ohayon, Regina; Kadir, Rotem; Michalowski, Analia; Flusser, Hagit; Perez, Yonatan; Hershkovitz, Eli; Sivan, Sara; Birk, Ohad S

    2017-12-01

    PAX7 encodes a transcription factor essential in neural crest formation, myogenesis, and pituitary lineage specification. Pax7 null mice fail to thrive and exhibit muscle weakness, dying within 3 weeks. We describe a human autosomal-recessive syndrome, with failure to thrive, severe global developmental delay, microcephaly, axial hypotonia, pyramidal signs, dystonic postures, seizures, irritability, and self-mutilation. Aside from low blood carnitine levels, biochemical and metabolic screen was normal, with growth hormone deficiency in one patient. Electromyography was normal, with no specific findings in brain MRI/MRS yet nondemonstrable neuropituitary, a finding of unclear significance. Muscle biopsy showed unaffected overall organization of muscle fibers, yet positive fetal alpha myosin staining, suggesting regeneration. Homozygosity mapping with whole-exome sequencing identified a single disease-associated mutation in PAX7, segregating as expected in the kindred with no homozygosity in 200 ethnically matched controls. Transfection experiments showed that the PAX7 splice-site mutation putatively causes nonsense-mediated mRNA decay affecting onlyPAX7 isoform 3. This isoform, expressed specifically in brain, skeletal muscle and testes, is the sole Pax7 variant normally found in mice. The human muscle phenotype is in line with that in conditional Pax7 null mutant mice, where initial aberrant histological findings resolve postnatally through muscle regeneration. © 2017 Wiley Periodicals, Inc.

  1. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

    NARCIS (Netherlands)

    Barth, Peter G.; Ryan, Monique M.; Webster, Richard I.; Aronica, Eleonora; Kan, Alex; Ramkema, Marja; Jardine, Philip; Poll-The, Bwee Tien

    2008-01-01

    Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis

  2. Amelogenesis Imperfect, Enamel Hypoplasia and Fluorosis Dental - Literature Review

    Directory of Open Access Journals (Sweden)

    Flávia Magnani Bevilacqua

    2015-12-01

    Full Text Available The developmental disorders of enamel are abnormalities of structure which can affect both dentitions. These abnormalities include amelogenesis imperfecta, enamel hypoplasia and dental fluorosis. The amelogenesis imperfecta is a hereditary change and enamel hypoplasia is a quantitative defect of enamel that occurs as a result of systemic problems, local and also inherited factors, or even the combination of them. Dental fluorosis is a hypoplasia caused by the chronic ingestion of fluoride during odontogenesis. All these anomalies have similar clinical characteristics, and it is necessary to be careful in their assessment. It is extremely important to know these abnormalities to establish a differential diagnosis and, consequently, a treatment plan, which can be set for each situation. Therefore, the purpose of this study was to review the literature regarding these three anomalies: amelogenesis imperfecta, enamel hypoplasia and dental fluorosis. It was concluded that to establish the differential diagnosis of these abnormalities as well as a proper treatment plan, it is indispensable the professional knowledge associated with the clinical examination. The examination has to consist of medical history and physical examination, and in some cases, x-ray examination.

  3. Congenital bicuspid stenosis with left ventricular hypoplasia in a kitten.

    Science.gov (United States)

    van Nie, C J; van Messel, M A; Straatman, T J

    1980-01-15

    Congenital bicuspid stenosis with left ventricular hypoplasia was diagnosed in a kitten. Clinical weakness, dyspnoea and marked cardiomegaly (X rays) were related to postmortem findings. The cardiomegaly had resulted from an enlargement of the left auricular appendage. It is supposed the cardiomegaly developed after the closing of the foramen ovale.

  4. Hypoplasia of the internal carotid artery with intercavernous anastomosis

    International Nuclear Information System (INIS)

    Chen, C.J.; Wang, L.J.; Wong, Y.C.; Chen, S.T.; Hsieh, F.Y.

    1998-01-01

    We report a symptomatic case of unilateral hypoplasia of the internal carotid artery with an intercavernous anastomosis, a very rare developmental anomaly. The symptoms were caused by occlusion of the proximal middle cerebral artery which possibly related to the haemodynamic stress caused by the anomalous intercavernous anastomosis. (orig.)

  5. 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.

  6. 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 ...

  7. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    Directory of Open Access Journals (Sweden)

    Nadia Skauli

    2016-11-01

    Full Text Available Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3, characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

  8. FACIAL PAIN·

    African Journals Online (AJOL)

    -As the conditions which cause pain in the facial structures are many and varied, the ... involvement of the auriculo-temporal nerve and is usually relieved by avulsion of that .... of its effects. If it is uspected that a lesion in the po terior fossa ma ...

  9. Anterior maxillary segmental distraction for correction of maxillary hypoplasia and dental crowding in cleft palate patients: a preliminary report.

    Science.gov (United States)

    Wang, X-X; Wang, X; Li, Z-L; Yi, B; Liang, C; Jia, Y-L; Zou, B-S

    2009-12-01

    To evaluate the feasibility of anterior maxillary segmental distraction (AMSD) to correct maxillary hypoplasia and severe dental crowding in cleft lip and palate (CLP) patients, 7 patients (average age 16.4 years) with maxillary hypoplasia, shortened maxillary dental arch length and severe anterior dental crowding secondary to CLP were selected for this study. After anterior maxillary segmental osteotomy, 3 patients were treated using bilateral internal distraction devices, and 4 patients were treated using rigid external distraction devices. Photographs and radiographs were taken to review the improvement in facial profile and occlusion after distraction. An average 10.25 mm anterior maxillary advancement was obtained in all patients after 10-23 days of distraction and 9-16 weeks of consolidation. The sella-nasion-point A (SNA) angle increased from 69.5 degrees to 79.6 degrees. Midface convexity was greatly improved and velopharyngeal competence was preserved. The maxillary dental arch length was greatly increased by 10.1 mm (P<0.01). Dental crowding and malocclusion were corrected by orthodontic treatment. These results show that AMSD can effectively correct the hypoplastic maxilla and severe dental crowding associated with CLP by increasing the midface convexity and dental arch length while preserving velopharyngeal function, and dental crowding can be corrected without requiring tooth extraction.

  10. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  11. Treatment of enamel hypoplasia in a patient with Usher syndrome.

    Science.gov (United States)

    de la Peña, Victor Alonso; Valea, Martín Caserío

    2011-08-01

    Usher syndrome (USH) is a group of autosomal recessive diseases characterized by the association of retinitis pigmentosa with sensorineural hearing loss. There are three types of USH. In addition, in people with USH and hypoplasia, the thickness of the enamel is reduced. The authors describe a case of a patient with USH type II associated with severe enamel hypoplasia and multiple unerupted teeth. The authors placed direct composite crowns and extracted severely affected and impacted molars. There is little information available on the oral pathologies of USH. Because the authors did not know how the patient's condition would progress and the patient still was growing, the authors treated the patient conservatively by placing direct composite crowns. The treatment has met both esthetic and functional expectations for 10 years. Copyright © 2011 American Dental Association. All rights reserved.

  12. Ischio-pubic-patellar hypoplasia: is it a new syndrome?

    International Nuclear Information System (INIS)

    Habboub, H.K.; Thneibat, W.A.

    1997-01-01

    Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. (orig.). With 1 fig

  13. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    OpenAIRE

    Juniarti, Devi Eka

    2010-01-01

    Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel h...

  14. Isolated unilateral pulmonary artery hypoplasia with accompanying pulmonary parenchymal findings on CT: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Surin; Cha, Yoon Ki; Kim, Jeung Sook; Kwon, Jae Hyun; Jeong, Yun Jeong [Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang (Korea, Republic of); Kim, Seon Jeong [Dept. of Radiology, Myongji Hospital, Goyang (Korea, Republic of)

    2017-05-15

    Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis. On computed tomography (CT), the left pulmonary artery showed hypoplasia with multiple collateral vessels seen in the mediastinum and the left hemithorax. Also, parenchymal bands and peripheral linear opacities were seen in the affected lung, which were probably due to chronic infarction induced by unilateral pulmonary artery hypoplasia. There are only a few reports focusing on the radiologic findings in the pulmonary parenchyma induced by unilateral pulmonary artery hypoplasia, such as parenchymal bands and peripheral linear opacities. Therefore we report this case, which focused on the CT findings in the pulmonary parenchyma due to isolated unilateral pulmonary artery hypoplasia.

  15. Isolated unilateral pulmonary artery hypoplasia with accompanying pulmonary parenchymal findings on CT: A case report

    International Nuclear Information System (INIS)

    Park, Surin; Cha, Yoon Ki; Kim, Jeung Sook; Kwon, Jae Hyun; Jeong, Yun Jeong; Kim, Seon Jeong

    2017-01-01

    Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis. On computed tomography (CT), the left pulmonary artery showed hypoplasia with multiple collateral vessels seen in the mediastinum and the left hemithorax. Also, parenchymal bands and peripheral linear opacities were seen in the affected lung, which were probably due to chronic infarction induced by unilateral pulmonary artery hypoplasia. There are only a few reports focusing on the radiologic findings in the pulmonary parenchyma induced by unilateral pulmonary artery hypoplasia, such as parenchymal bands and peripheral linear opacities. Therefore we report this case, which focused on the CT findings in the pulmonary parenchyma due to isolated unilateral pulmonary artery hypoplasia

  16. Unilateral Glenoid Hypoplasia: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ashish Suryawanshi

    2011-01-01

    Full Text Available Glenoid hypoplasia is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head or changes in the morphology of the acromion and of the coracoid. We describe a rare case of unilateral glenoid hypoplasia without instability and not involving humeral head. The patient was managed effectively with nonoperative measures that featured specific rehabilitation exercises for the shoulder.

  17. 2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.

    Science.gov (United States)

    Zhao, Peiwei; Mao, Bing; Cai, Xiaonan; Jiang, Jun; Liu, Zhisheng; Lin, Jun; He, Xuelian

    2018-06-01

    Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear. Single nucleotide polymorphisms (SNP) array detected a 5.2 Mb deletion on 2q24.2q24.3, including 19 genes (ITGB6; TBR1; SLC4A10; KCNH7 SCN3A; SCN2A et al.). Among these genes, it is affirmative that TBR1 is a causative gene for intellectual disability; however, the pathogenic genes of other phenotypes remain unclear. We briefly review the knowledge of genes likely involved in these clinical features, including hearing impairment, anal atresia, and developmental delay. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?

    Science.gov (United States)

    Priolo, M; Lerone, M; Rosaia, L; Calcagno, E P; Sadeghi, A K; Ghezzi, F; Ravazzolo, R; Silengo, M

    2000-10-01

    We report a boy with prominent, peculiarly malformed ears, abnormality of the ramus of the mandible and hypotonia. An isolated peculiar bilateral ear deformity named 'question mark ear' has been delineated in plastic reconstruction surgery reviews [Cosman et al., 1970 Plast Reconstr Surg 46:454-457; Cosman (1984) Plast Reconstr Surg 73:572-576; Takato et al. (1989) Ann Plast Surg 22:69-73; Brodovsky (1997) Plast Reconstr Surg 100:1254-1257; Park (1998) Plast Reconstr Surg 101:1620-1623; Al-Quattan (1998) Plast Reconstr Surg 102:439-441] and a similar deformity of the ear and changes in the temporo-mandibular joint and condyle has been described by Jampol et al. [(1998) Am J Med Genet 75:449-452] and by Guion-Almeida et al. [(1999) Am J Med Genet 86:130-133]. The present case may be the third description of this malformation complex with additional clinical features characterized by hypotonia and mild developmental delay, or possibly a new distinct entity.

  19. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures

    International Nuclear Information System (INIS)

    Mennel, Emilie A.; John, Susan D.

    2003-01-01

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis. (orig.)

  20. Hypoplasia of the thumb. Clinical presentation and reconstruction

    International Nuclear Information System (INIS)

    Vergara A, Enrique M

    2008-01-01

    In the genesis of the partial or total absence of the thumb they are genetic, environmental factors or a combination of both. It is take part of a syndrome or to be isolated and frequently associated with problems of radial longitudinal deficiency of the forearm. Objective. The purpose of this study is shown the experience, the focus of the processing and the results obtained since the point esthetic and functional view. The most it accepted classification is the proposal by Blauth that helps to determine the forecast and the processing. Materials and methods. it is a work type series of cases in 22 children with hypoplasia of the thumb, with a minimum of 12 months, (average 28 months). In 15 cases there were association of radial dysplasia or another anomaly among them 4 patients with VATER, and the 7 remaining they corresponded to hypoplasia of the thumb as only entity. We carried out tendon transfer, with opening of the first comisure in 2 patients with hypoplasia type II. In 3 patients, with hypoplasia type III A, one carries out corner opening, transfer of the superficial flexor of the 4 finger to correct instability of the articulation MF and opposition of the thumb, and transfer for extension of the thumb. In 17 cases one carries out politicization of the index. Results. The outcome was evaluated in: non pinch, lateral pinch and fingertip pinch; the grade of opposition like good, minimal and non opposition, and the aesthetic result according to the satisfaction of the parents in bad, regular and good. The five children reconstructed with transfers of tendons and comisure opening had good result. In 17 children with politicization one patient had a necrosis, of the 16 remaining a good or acceptable result was obtained. Discussion. It is not easy to follow a good system of measure of the functional results. We find that a practical way to evaluate was the clip, opposition and aesthetics. Previous to the surgeries it is required to evaluate alterations

  1. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    Energy Technology Data Exchange (ETDEWEB)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

    2004-11-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  2. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    International Nuclear Information System (INIS)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

    2004-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  3. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Devi Eka Juniarti

    2010-09-01

    Full Text Available Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel hypoplasia is a developmental defect caused by the lack of matrix amount which leads to thin and porous enamel. Enamel hypoplasia can also be caused by matrix calcification disturbance starting from the formation and development of enamel matrix causing defect and permanent changes which can occur on one or more tooth. Purpose: The aim of the study is to improve dental discoloration and tooth surface texture on anterior maxillary teeth with enamel hypoplasia by using indirect veneer with porcelain material. Case: A 20 years-old woman with enamel hypoplasia came to the Dental Hospital, Faculty of Dentistry Airlangga University. The patient wanted to improve her anterior maxillary teeth. It is clinically known that there were some opaque white spots (chalky spotted and porous on anterior teeth’s surface. Case management: Indirect veneer with porcelain material had been chosen as a restoration treatment which has excellent aesthetics and strength, and did not cause gingival irritation. As a result, the treatment could improve the confidence of the patient, and could also make their function normal. Conclusion: Indirect veneer is an effective treatment, which can improve patient’s appearance and self confidence.Latar belakang: Saat ini perbaikan estetik menjadi suatu kebutuhan. Kebutuhan akan estetik dipengaruhi latar belakang penderita, terutama karir, status sosial dan ekonomi. Hal ini disebabkan, kelainan estetik seperti diskolorasi, malposisi

  4. Trans-sinusal maxillary distraction for correction of midfacial hypoplasia: long-term clinical results.

    NARCIS (Netherlands)

    Nadjmi, N.; Schutyser, F.A.C.; Erum, R. van

    2006-01-01

    Maxillary distraction osteogenesis is indicated in severe angle class III malocclusions, and severe maxillary hypoplasia among some cleft patients and other craniofacial deformities. Twenty patients, aged 8-48 years (mean 17.8+/-10.5 SD) with maxillary and midfacial hypoplasia were treated. The

  5. Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

    Science.gov (United States)

    Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

    2018-02-27

    It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

  6. Distraction osteogenesis of radiation-induced orbitozygomatic hypoplasia.

    Science.gov (United States)

    Grover, Ramon; Murray, Dylan; Fialkov, Jeffrey A

    2008-05-01

    In the last decade, the application of distraction osteogenesis to the craniofacial skeleton has grown to include not only deformities of the mandible, but of the midface, palate, dentoalveolar region, and calvarium. A major advantage of distraction osteogenesis lies in the simultaneous soft tissue histogenesis that accompanies the bony distraction process, allowing for potentially lower relapse rates and improved cosmesis. Although this may seem appropriately suited to irradiation-induced deformities of both hard and soft tissues, there is little in the literature as to the efficacy of this technique in patients who have received radiotherapy. To introduce an effective application of this technology, and highlight some advantages and disadvantages of its application in the irradiated craniofacial skeleton, we present a case of distraction osteogenesis of the orbitozygomatic complex in a patient with radiation induced orbitozygomatic hypoplasia.

  7. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    Science.gov (United States)

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  8. The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy.

    Science.gov (United States)

    Bimstein, Enrique; Miskovich, Camilla

    2018-05-11

    This manuscript describes a case of a 4-year-old child with Down syndrome involving hypotonia in which the use of sweets to induce oral muscular function contributed to the need to extract all the primary teeth due to extensive caries. The need for interdisciplinary education and practice targeted to the treatment of children with special health care needs is emphasized.

  9. The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients

    Science.gov (United States)

    Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

    2011-01-01

    Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

  10. 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, ...

  11. Pulmonary Hypoplasia Caused by Fetal Ascites in Congenital Cytomegalovirus Infection Despite Fetal Therapy

    Directory of Open Access Journals (Sweden)

    Kazumichi Fujioka

    2017-11-01

    Full Text Available We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglobulin administration, which was supposed to diminish the pathogenic effects of CMV either by neutralization or immunomodulatory effects, the fetal ascites was uncontrollable. To prevent development of pulmonary hypoplasia in symptomatic congenital CMV infections, further fetal intervention to reduce ascites should be considered.

  12. 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

  13. Osteopathia striata: a characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    Barthels, W.; Boepple, D.; Petzel, H.

    1982-12-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality.

  14. Hypoplasia of bone marrow and cytopenia in non-hemic diseases

    International Nuclear Information System (INIS)

    Turbina, N.S.

    1987-01-01

    Common (stereotype) and different links in pathogenesis of hemodepressions pronounced in the form of cytopenia and/or hypoplasia of hemopoiesis are considered. Pathogenesis and signs of the diseases, as well as their diagnosis, are studied in detail

  15. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

    Directory of Open Access Journals (Sweden)

    Kobra Shiasi Arani

    2015-01-01

    Full Text Available Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings include hair hypoplasia, anemia, immunodeficiency, propensity to infections, gastrointestinal disorders (Hirschsprung disease, anal stenosis, esophageal atresia and malabsorption, defective spermatogenesis, increased risk of malignancies and higher rate of mortality. Immunodeficiency in cartilage-hair hypoplasia may be an isolated B-cell or isolated T-cell immunodeficiency or combined B and T-cell immunodeficiency; however, severe combined immunodeficiency is rare. There is no known treatment for hair hypoplasia. Growth hormone was used with conflicting results for short stature in children with Cartilage-hair hypoplasia. Skeletal problems must be managed with physiotherapy and appropriate orthopedic interventions. Hirschsprung disease, anal stenosis and esophageal atresia should be surgically corrected. Patients with severe hypoplastic anemia require repeated transfusions. Bone marrow transplantation may be required for patients with severe combined immunodeficiency or severe persistent hypoplastic anemia. Treatment with G-CSF is useful for neutropenia. Patients should be monitored closely for developing malignancy such as skin neoplasms, lymphomas and leukemias. Conclusions: Cartilage-hair hypoplasia is an important hereditary disease with different medical aspects. The high rate of consanguineous marriages in Iran necessitates considering CHH in any

  16. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

    Science.gov (United States)

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen

    2015-12-01

    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  17. Regional disc change in segmental hypoplasia of the lumbosacral vertebral bodies: MR findings

    International Nuclear Information System (INIS)

    Kim, Sung Kyu; Lee Seung Ro; Moon, Won Jin; Park, Dong Woo; Hahm, Chang Kok

    2000-01-01

    To classify types of vertebral hypoplasia and to investigate the prevalence and patterns of associated disc degeneration. Defining vertebral hypoplasia as occurring when the AP diameter of a lower vertebral body is smaller than that of an upper ones, we retrospectively reviewed the MR images obtained in 34 cases of this condition involving young adults. Two major types and two subtypes, a total of four different entities were classified as follows; type I: hypoplasia involving a single vertebral body; type II: hypoplasia involving serial lower segmental vertebral bodies; subtype a: hypoplastic body located anteriorly along the anterior spinal line; subtype b: hypoplastic body located posteriorly along the posterior spinal line. We also investigated each type of vertebral hypoplasia and patterns of associated disc changes. Three different types were observed. In type IIa (n=3D29), posterior disc occurred in 8/29 cases, diffuse degeneration in 21/29 patients, and posterior disc herniation in all. All type Ia cases (3/3) showed diffuse disc degeneration at both upper and lower disc levels, with posterior disc herniation, while both type IIb cases (2/2) showed diffuse disc degeneration, with bidirectional disc herniation. By identifying the exact patterns of vertebral hypoplasia, we were able to predict which portion of the disc was likely to degenerate. (author)

  18. 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...

  19. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

    Science.gov (United States)

    Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

    2010-02-01

    We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

  20. [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.

  1. Internal Carotid Artery Hypoplasia: Role of Color-Coded Carotid Duplex Sonography.

    Science.gov (United States)

    Chen, Pei-Ya; Liu, Hung-Yu; Lim, Kun-Eng; Lin, Shinn-Kuang

    2015-10-01

    The purpose of this study was to determine the role of color-coded carotid duplex sonography for diagnosis of internal carotid artery hypoplasia. We retrospectively reviewed 25,000 color-coded carotid duplex sonograms in our neurosonographic database to establish more diagnostic criteria for internal carotid artery hypoplasia. A definitive diagnosis of internal carotid artery hypoplasia was made in 9 patients. Diagnostic findings on color-coded carotid duplex imaging include a long segmental small-caliber lumen (52% diameter) with markedly decreased flow (13% flow volume) in the affected internal carotid artery relative to the contralateral side but without intraluminal lesions. Indirect findings included markedly increased total flow volume (an increase of 133%) in both vertebral arteries, antegrade ipsilateral ophthalmic arterial flow, and a reduced vessel diameter with increased flow resistance in the ipsilateral common carotid artery. Ten patients with distal internal carotid artery dissection showed a similar color-coded duplex pattern, but the reductions in the internal and common carotid artery diameters and increase in collateral flow from the vertebral artery were less prominent than those in hypoplasia. The ipsilateral ophthalmic arterial flow was retrograde in 40% of patients with distal internal carotid artery dissection. In addition, thin-section axial and sagittal computed tomograms of the skull base could show the small diameter of the carotid canal in internal carotid artery hypoplasia and help distinguish hypoplasia from distal internal carotid artery dissection. Color-coded carotid duplex sonography provides important clues for establishing a diagnosis of internal carotid artery hypoplasia. A hypoplastic carotid canal can be shown by thin-section axial and sagittal skull base computed tomography to confirm the final diagnosis. © 2015 by the American Institute of Ultrasound in Medicine.

  2. Intertooth patterns of hypoplasia expression: implications for childhood health in the classic Maya collapse.

    Science.gov (United States)

    Wright, L E

    1997-02-01

    Enamel hypoplasias, which record interacting stresses of nutrition and illness during the period of tooth formation, are a key tool in the study of childhood health in prehistory. But interpretation of the age of peak morbidity is complicated by differences in susceptibility to stress both between tooth positions and within a single tooth. Here, hypoplasias are used to evaluate the prevailing ecological model for the collapse of Classic Period Lowland Maya civilization, circa AD 900. Hypoplasias were recorded in the full dentition of 160 adult skeletons from six archaeological sites in the Pasion River region of Guatemala. Instead of constructing a composite scale of stress experience, teeth are considered separately by position in the analysis. No statistical differences are found in the proportion of teeth affected by hypoplasia between "Early," Late Classic, and Terminal Classic Periods for anterior teeth considered to be most susceptible to stress, indicating stability in the overall stress loads affecting children of the three chronological periods. However, hypoplasia trends in posterior teeth may imply a change in the ontogenetic-timing of more severe stress episodes during the final occupation and perhaps herald a shift in child-care practices. These results provide little support for the ecological model of collapse but do call to attention the potential of posterior teeth to reveal subtle changes in childhood morbidity when consideredindividually.

  3. 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.

  4. 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.

  5. 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.

  6. [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.

  7. Enamel hypoplasia and its role in identification of individuals: A review of literature

    Science.gov (United States)

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K.

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  8. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Directory of Open Access Journals (Sweden)

    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  9. Analysis of the enamel hypoplasia using micro-CT scanner versus classical method.

    Science.gov (United States)

    Marchewka, Justyna; Skrzat, Janusz; Wróbel, Andrzej

    2014-01-01

    This article demonstrates the use of micro-CT scanning of the teeth surface for recognizing and evaluating severity of the enamel hypoplasia. To test capabilities of the microtomography versus classical method of evaluation hypoplastic defects of the enamel we selected two human teeth (C, M(2)) showing different types of enamel hypoplasia: linear, pits, and groove. Examined samples derive from archeological material dated on XVII-XVIII AD and excavated in Poland. In the current study we proved that micro-CT scanning is a powerful technique not only for imaging all kinds of the enamel hypoplasia but also allows to perform accurate measurements of the enamel defects. We figure out that contrary to the classical method of scoring enamel defects, the micro-computed tomography yields adequate data which serve for estimating the length of stress episode and length of interval between them.

  10. 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.

  11. 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

  12. Use of repeat anterior maxillary distraction to correct residual midface hypoplasia in cleft patients.

    Science.gov (United States)

    Richardson, Sunil; Krishna, Shreya; Bansal, Avi

    2017-12-01

    The study was designed to evaluate the efficacy of performing a second, repeat anterior maxillary distraction (AMD) to treat residual cleft maxillary hypoplasia. Five patients between the ages of 12 to 15 years with a history of AMD and with residual cleft maxillary hypoplasia were included in the study. Inclusion was irrespective of gender, type of cleft lip and palate, and the amount of advancement needed. Repeat AMD was executed in these patients 4 to 5 years after the primary AMD procedure to correct the cleft maxillary hypoplasia that had developed since the initial procedure. Orthopantomogram (OPG) and lateral cephalograms were taken for evaluation preoperatively, immediately after distraction, after consolidation, and one year postoperatively. The data obtained was tabulated and a Mann Whitney U-test was used for statistical comparisons. At the time of presentation, a residual maxillary hypoplasia was observed with a well maintained distraction gap on the OPG which ruled out the occurrence of a relapse. Favorable movement of the segments without any resistance was seen in all patients. Mean maxillary advancement of 10.56 mm was achieved at repeat AMD. Statistically significant increases in midfacial length, SNA angle, and nasion perpendicular to point A distance was achieved ( P =0.012, P =0.011, and P =0.012, respectively). Good profile was achieved for all patients. Minimal transient complications, for example anterior open bite and bleeding episodes, were managed. Addressing the problem of cleft maxillary hypoplasia at an early age (12-15 years) is beneficial for the child. Residual hypoplasia may develop in some patients, which may require additional corrective procedures. The results of our study show that AMD can be repeated when residual deformity develops with the previous procedure having no negative impact on the results of the repeat procedure.

  13. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  14. 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 ...

  15. The helical three-dimensional CT in the diagnosis of torticollis with occipitocondylar hypoplasia

    International Nuclear Information System (INIS)

    Ilkko, E.; Tikkakoski, T.; Pyhtinen, J.

    1998-01-01

    Congenital anomalies of the atlanto-occipital and atlantoaxial joints are rare. Those most commonly reported are atlantoaxial instability, basilar impression, anomalies of the odontoid process, laxity of the transverse atlantal ligament and atlanto-occipital fusion. Occipital condylar hypoplasia is infrequent and difficult to recognise. We recently diagnosed it using helical 3D CT in association with torticollis in two patients. The first patient had a several year history of torticollis. The second patient had acute cervical lymphadenitis associated with post-operative torticollis. 3D CT distinctly revealed atlantoaxial subluxation with hypoplasia of the occipital condyles in both cases. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  16. The helical three-dimensional CT in the diagnosis of torticollis with occipitocondylar hypoplasia

    International Nuclear Information System (INIS)

    Ilkko, E.; Tikkakoski, T.; Pyhtinen, J.

    1998-01-01

    Congenital anomalies of the atlanto-occipital and atlantoaxial joints are rare. Those most commonly reported are atlantoaxial instability, basilar impression, anomalies of the odontoid process, laxity of the transverse atlantal ligament and atlanto-occipital fusion. Occipital condylar hypoplasia is infrequent and difficult to recognise. We recently diagnosed it using helical 3D CT in association with torticollis in two patients. The first patient had a several year history of torticollis. The second patient had acute cervical lymphadenitis associated with post-operative torticollis. 3D CT distinctly revealed atlantoaxial subluxation with hypoplasia of the occipital condyles in both cases

  17. 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...

  18. 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.

  19. 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...

  20. 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.

  1. 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.

  2. 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.)

  3. Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

    NARCIS (Netherlands)

    Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A.M. van der; Otten, B.J.

    2004-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. We studied the effects of growth hormone treatment on growth parameters and the immune system in four children with CHH. The

  4. A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

    Science.gov (United States)

    Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

    2017-10-01

    Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

  5. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. CARTILAGE HAIR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA TYPE MCKUSICK - DESCRIPTION OF 7 PATIENTS AND REVIEW OF THE LITERATURE

    NARCIS (Netherlands)

    VANDERBURGT, [No Value; HARALDSSON, A; OOSTERWIJK, JC; VANESSEN, AJ; WEEMAES, C; HAMEL, B

    1991-01-01

    We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal

  7. Osteopathia striata: A characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

    International Nuclear Information System (INIS)

    Barthels, W.; Boepple, D.; Petzel, H.

    1982-01-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality. (orig.)

  8. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Science.gov (United States)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  9. Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

    NARCIS (Netherlands)

    Jap-A-Joe, Simone M. E. A. A.; Oostra, Roelof-Jan; Maas, Mario; Stoker, Jaap; van der Horst, Chantal M. A. M.

    2003-01-01

    A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal meningoencephalocele and hypoplasia of the

  10. Unusual right ventricle aneurysm and dysplastic pulmonary valve with mitral valve hypoplasia

    Directory of Open Access Journals (Sweden)

    Ozge Pamukcu

    2013-01-01

    Full Text Available We report a newborn with an unusual combination of aneurysmally dilated thin-walled right ventricle with hypertrophy of the apical muscles of the right ventricle. There was narrow pulmonary annulus, pulmonary regurgitation, and hypoplasia of the mitral valve and left ventricle. We propose that this heart represents a partial form of Uhl`s anomaly.

  11. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Science.gov (United States)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  12. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

    NARCIS (Netherlands)

    Poulter, James A.; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M.; Sheridan, Eamonn; Carr, Ian M.; Parry, David A.; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I.; Webster, Andrew R.; Moore, Anthony T.; Pal, Bishwanath; Mohamed, Moin D.; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A.; Hewitt, Alex W.; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F.; Toomes, Carmel

    2013-01-01

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism

  13. Massive facial teratoma managed with the ex utero intrapartum treatment (EXIT procedure and use of a 3-dimensional printed model for planning of staged debulking

    Directory of Open Access Journals (Sweden)

    Maggie M. Hodges

    2017-02-01

    Full Text Available Teratomas are the most frequent solid tumor found in neonates. However, only 1.5% of neonatal teratomas originate from facial structures. Neonatal facial teratomas are associated with polyhydramnios, preterm birth, pulmonary hypoplasia, cleft palate, cleft lip, and life-threatening airway compromise. The overall survival reported with these lesions has been between 17 and 87.5%; however survival in the setting of antenatally diagnosed facial teratomas has only been described anecdotally. We present a case of an antenatally diagnosed massive facial teratoma originating from the pterygomaxillary fossa, which was associated with polyhydramnios and pre-term birth. We managed this complex tumor with an ex utero intrapartum treatment (EXIT procedure, multidisciplinary medical and surgical team, and staged excision and reconstruction aided by use of a 3-dimensional printed model. Here we review the surgical management of this rare and complex tumor.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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

  1. Patient-Reported Esthetic and Functional Outcomes of Primary Total Laparoscopic Intestinal Vaginoplasty in Transgender Women With Penoscrotal Hypoplasia

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Woudenberg Hamstra, L.E. van; Buncamper, M.E.; Kreukels, B.P.; Meijerink, W.J.H.J.; Mullender, M.G.

    2016-01-01

    INTRODUCTION: Puberty-suppressing hormonal treatment may result in penoscrotal hypoplasia in transgender women, making standard penile inversion vaginoplasty not feasible. For these patients, intestinal vaginoplasty is a surgical alternative, but knowledge on patient-reported postoperative outcomes

  2. MRI and three dimensional ultrasonography in the assessment of pulmonary hypoplasia in fetuses with urinary tract anomalies

    Directory of Open Access Journals (Sweden)

    Mariam Raafat

    2016-12-01

    Conclusion: There is a good concordance between 3D-US and MRI in the evaluation of PH in fetuses with UTM. MRI could be reserved for borderline cases of pulmonary hypoplasia and the difficult diagnostic situations.

  3. Ischemic stroke in patient with existing congenital hypoplasia of the middle cerebral artery

    International Nuclear Information System (INIS)

    Manchev, I.; Manolova, T.; Manchev, L.

    2015-01-01

    Presented is a clinical case of a woman 29 years old with ischemic stroke (IS), which has developed abruptly in existing congenital hypoplasia and occlusion of the middle cerebral artery. There are no other well or less well documented risk factors for cerebrovascular disease. In family history noted that the father of the patient died suddenly at the age of 45 years from stroke, also without evidence of vascular disease. On magnetic resonance imaging (MRI) of the brain is found high signal zone in the left nucleus lentiformis. We discussed the possibilities for implementing conventional angiography and eventually surgical procedures unfortunately rejected due to the high risk to the patient. Key words: Ischemic Stroke. Magnetic Resonance Imaging. Hypoplasia

  4. Unilateral hypoplasia with contralateral hypertrophy of anterior belly of digastric muscle: a case report.

    Science.gov (United States)

    Ochoa-Escudero, Martin; Juliano, Amy F

    2016-10-01

    Anomalies of the anterior belly of the digastric muscle (DM) are uncommon. We present a case of hypoplasia of the anterior belly of the left DM with hypertrophy of the anterior belly of the contralateral DM. The importance of recognizing this finding is to differentiate hypoplasia of the anterior belly of the DM from denervation atrophy, and not to confuse contralateral hypertrophy with a submental mass or lymphadenopathy. In denervation atrophy of the anterior belly of the DM, associated atrophy of the ipsilateral mylohyoid muscle is present. Hypertrophy of the anterior belly of the contralateral DM can be differentiated from a submental mass or lymphadenopathy by recognizing its isodensity on computed tomography and isointensity on magnetic resonance imaging to other muscles, without abnormal contrast enhancement.

  5. X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1

    Energy Technology Data Exchange (ETDEWEB)

    Raynaud, M.; Dessay, B.; Ayrault, A.D. [INSERM, Marseille (France)] [and others

    1996-07-12

    Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. 58 refs., 3 figs., 5 tabs.

  6. Management of Cleft Maxillary Hypoplasia with Anterior Maxillary Distraction: Our Experience

    OpenAIRE

    Chacko, Tojan; Vinod, Sankar; Mani, Varghese; George, Arun; Sivaprasad, K. K.

    2013-01-01

    Maxillary hypoplasia is a common developmental problem in cleft lip and palate deformities. Since 1970s these deformities have traditionally been corrected by means of orthognathic surgery. Management of skeletal deformities in the maxillofacial region has been an important challenge for maxillofacial surgeons and orthodontists. Distraction osteogenesis is a surgical technique that uses body’s own repairing mechanisms for optimal reconstruction of the tissues. We present four cases of anterio...

  7. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos

    International Nuclear Information System (INIS)

    Zhang, Ting; Zhou, Xin-Ying; Ma, Xu-Fa; Liu, Jing-Xia

    2015-01-01

    Highlights: Using high-throughput in situ hybridization screening, we found that genes labeling the neural crest and its derivative pigment cells were sensitive to cadmium toxicity during zebrafish organogenesis, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in cadmium-exposed embryos. Based on neural crest markers, we identified the doses and times of cadmium exposure that cause damage to the zebrafish organogenesis, and we also found that compounds BIO or RA could neutralize the toxic effects of cadmium. - Abstract: Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd.

  8. Bilateral congenital absence of flexor pollicis longus with thumb hypoplasia and thenar atrophy

    International Nuclear Information System (INIS)

    Chaudhary, Vikas; Sehgal, Harsha; Bano, Shahina; Parmar, Pranjali R; Kumar, Sanjay

    2014-01-01

    Congenital absence of flexor pollicis longus with or without associated anomalies of thenar muscles and thumb is of rare occurrence. Inability to flex the interphalangeal joint of the thumb and absent dorsal wrinkles and flexion creases of the thumb are important clues to the diagnosis. Routine radiography and cross-sectional imaging help to confirm and document the condition. This article presents an extremely rare case of bilateral congenital absence of flexor pollicis longus tendon with thumb hypoplasia and thenar atrophy

  9. Correction of axial deformity during lengthening in fibular hypoplasia: Hexapodal versus monorail external fixation.

    Science.gov (United States)

    Chalopin, A; Geffroy, L; Pesenti, S; Hamel, A; Launay, F

    2017-09-01

    Childhood fibular hypoplasia is a rare pathology which may or may not involve limb-length discrepancy and axial deformity in one or more dimensions. The objective of the present study was to compare the quality of the axial correction achieved in lengthening procedures by hexapodal versus monorail external fixators. The hypothesis was that the hexapodal fixator provides more precise correction. A retrospective multicenter study included 52 children with fibular hypoplasia. Seventy-two tibias were analyzed, in 2 groups: 52 using a hexapodal fixator, and 20 using a monorail fixator. Mean age was 10.2 years. Mean lengthening was 5.7cm. Deformities were analyzed and measured in 3 dimensions and classified in 4 preoperative types and 4 post-lengthening types according to residual deformity. Complete correction was achieved in 26 tibias in the hexapodal group (50%) and 2 tibias in the monorail group (10%). Mean post-correction mechanical axis deviation was smaller in the hexapodal group: 12.83mm, versus 14.29mm in the monorail group. Mean post-correction mechanical lateral distal femoral angle was 87.5° in the hexapodal group, versus 84.3° in the monorail group (P=0.002), and mean mechanical medial proximal tibial angle 86.9° versus 89.5°, respectively (P=0.015). No previous studies focused on this congenital pathology in lengthening and axial correction programs for childhood lower-limb deformity. The present study found the hexapodal fixator to be more effective in conserving or restoring mechanical axes during progressive bone lengthening for fibular hypoplasia. The hexapodal fixator met the requirements of limb-length equalization in childhood congenital lower-limb hypoplasia, providing better axial correction than the monorail fixator. IV. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  10. Unilateral Pulmonary Artery Agenesis with Ipsilateral Pulmonary Hypoplasia as Incidental Finding in an Asthmatic Patient

    Directory of Open Access Journals (Sweden)

    Catalina Contreras-Arias

    2014-01-01

    Full Text Available Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unsual nding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  11. Generalized seizures in the right hippocampus sclerosis combined with hypoplasia of the right vertebral artery

    International Nuclear Information System (INIS)

    Manchev, L.; Toneva, J.; Manolova, T.; Manchev, I.; Valcheva, V.

    2016-01-01

    We present a clinical case of generalized epileptic seizures, occurring suddenly. The common finding from MRI of the brain is sclerosis of the right hippocampus, while MR angiography shows hypoplasia of the right vertebral artery. There are EEG signs for single foci of abnormal activity more on the right side. An anticonvulsant and symptomatic treatment demonstrate a favorable result. Under discussion is the question of surgery treatment. Key words: Hippocampal Sclerosis. MRI. Epileptic Seizures

  12. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ting, E-mail: zting@webmail.hzau.edu.cn; Zhou, Xin-Ying, E-mail: 290356082@qq.com; Ma, Xu-Fa, E-mail: xufama@mail.hzau.edu.cn; Liu, Jing-Xia, E-mail: ichliu@mail.hzau.edu.cn

    2015-10-15

    Highlights: Using high-throughput in situ hybridization screening, we found that genes labeling the neural crest and its derivative pigment cells were sensitive to cadmium toxicity during zebrafish organogenesis, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in cadmium-exposed embryos. Based on neural crest markers, we identified the doses and times of cadmium exposure that cause damage to the zebrafish organogenesis, and we also found that compounds BIO or RA could neutralize the toxic effects of cadmium. - Abstract: Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd.

  13. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  14. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Osama M Sarhan

    2013-01-01

    Full Text Available Association between Prune belly syndrome (PBS and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  15. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature.

    Science.gov (United States)

    Sarhan, Osama M; Al-Ghanbar, Mustafa S; Nakshabandi, Ziad M

    2013-10-01

    Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  16. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    Science.gov (United States)

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia). Images PMID:8487282

  17. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    OpenAIRE

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

  18. Paralisia facial bilateral

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1976-03-01

    Full Text Available É apresentado um caso de diplegia facial surgida após meningite meningocócica e infecção por herpes simples. Depois de discutir as diversas condições que o fenômeno pode apresentar-se, o autor inclina-se por uma etiologia herpética.

  19. Diplegia facial traumatica

    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.

  20. 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.

  1. 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.

  2. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  3. Urethral hydrodistension for management of urethral hypoplasia in prune belly syndrome: long-term results.

    Science.gov (United States)

    Kajbafzadeh, Abdol-Mohammad; Rasouli, Mohammad Reza; Dianat, SeyedSaeid; Nezami, Behtash G; Mahboubi, Amir Hassan; Sina, Alireza

    2010-11-01

    The aim of the study was to evaluate the efficacy and safety of urethral hydrodistension for management of urethral hypoplasia in prune belly syndrome (PBS). During a 10-year period, 7 infants with PBS and urethral hypoplasia presented either with open urachus or surgically created urinary diversion referred to our hospital. Five milliliters of normal saline was pushed via a 22-gauge plastic angiocatheter into the urethra with simultaneous finger pressure on the perineum to occlude the proximal urethra that was repeated with higher volumes of the solution (up to 20 mL). The procedure was continued until a 6F or 8F feeding tube catheter confirmed the urethral patency. Hydrodistension was repeated in 3-month intervals till complete patency was confirmed by imaging. Median age of the infants was 6 (1-8) months. All urethral hydrodistension were successful after 1 to 3 sessions. Follow-up imaging studies showed significant improvement in all patients except one. Natural and surgically created urinary diversions were closed in 6 infants. The hydrodistension create an equal and constant pressure into the urethral wall without any urethral damage. This technique can be considered along with the other available methods for management of urethral hypoplasia in selected cases of PBS. Copyright © 2010 Elsevier Inc. All rights reserved.

  4. Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia.

    Science.gov (United States)

    Nguyen, Alexandre; Martin Silva, Nicolas; de Boysson, Hubert; Damaj, Gandhi; Aouba, Achille

    2018-04-24

    Cartilage hair hypoplasia (CHH) is a rare autosomal recessive ribosomopathy characterised by skeletal and integumentary system manifestations. It may also present with varied forms and intensities of haematopoietic and/or immune disorders. We report a 27-year-old female who presented a picture of combined immunodeficiency after receiving an adriamycin-based chemotherapy regimen followed by autologous stem cell transplantation. Her medical history indicated neonatal dwarfism, recurrent ear, nose and throat and respiratory infections, and hypogammaglobulinaemia, which were suggestive of a primary minor B-cell immune deficiency. Taken together, the diagnosis of cartilage hair hypoplasia was suspected and confirmed by means of molecular biological analysis. Here, we discuss the causal relationship and molecular mechanisms existing between both primary immunodeficiency and lymphoma conditions and between chemotherapy cytotoxicity and aggravation of the immune system and associated hematopoietic dysfunction, considering the role of all these components in light of the initially undiagnosed cartilage hair hypoplasia. Finally, this case highlights the importance of screening for primary immunodeficiencies in the setting of a diagnosis of lymphoma and/or dwarfism; moreover, CHH must be distinguished from other causes of small size; its diagnosis and complete check-up must include the molecular characterisation, and its management must be global in collaboration with haematologists, immunologists and internists.

  5. [Pulmonary hypoplasia: An analysis of cases over a 20-year period].

    Science.gov (United States)

    Delgado-Peña, Yanny Paola; Torrent-Vernetta, Alba; Sacoto, Gabriela; de Mir-Messa, Inés; Rovira-Amigo, Sandra; Gartner, Silvia; Moreno-Galdó, Antonio; Molino-Gahete, José Andrés; Castillo-Salinas, Felíx

    2016-08-01

    Pulmonary hypoplasia is the most frequent congenital anomaly associated with perinatal mortality. A retrospective and descriptive review was conducted on cases of patients diagnosed with pulmonary hypoplasia between 1995 and 2014 in a tertiary university hospital. An analysis was made of the prenatal imaging, clinical manifestations, post-natal diagnostic tests, treatment and management, long-term follow up, and survival data. A total of 60 cases were identified, all of them with prenatal imaging. Sixteen patients required foetal surgery. Congenital diaphragmatic hernia was the most frequent diagnosis. Main clinical presentation was respiratory distress with severe hypoxemia and high requirements of mechanical ventilation. Mortality rate was 47% within first 60 days of life, and 75% for the first day of life. Pneumonia and recurrent bronchitis episodes were observed during follow-up. They had a lung function obstructive pattern, and their quality of life and exercise tolerance was good. High neonatal mortality and significant long-term morbidity associated with pulmonary hypoplasia requires an early diagnosis and a specialised multidisciplinary team management. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos.

    Science.gov (United States)

    Zhang, Ting; Zhou, Xin-Ying; Ma, Xu-Fa; Liu, Jing-Xia

    2015-10-01

    Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism.

    Science.gov (United States)

    Masuda, Naonori; Hasegawa, Taiji; Yamashita, Mariko; Ogata, Nahoko

    2014-01-01

    Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism.

  8. Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus.

    Directory of Open Access Journals (Sweden)

    Heli Venhoranta

    Full Text Available Impaired migration of primordial germ cells during embryonic development causes hereditary gonadal hypoplasia in both sexes of Northern Finncattle and Swedish Mountain cattle. The affected gonads exhibit a lack of or, in rare cases, a reduced number of germ cells. Most affected animals present left-sided gonadal hypoplasia. However, right-sided and bilateral cases are also found. This type of gonadal hypoplasia prevails in animals with white coat colour. Previous studies indicated that gonadal hypoplasia is inherited in an autosomal recessive fashion with incomplete penetrance. In order to identify genetic regions underlying gonadal hypoplasia, a genome-wide association study (GWAS and a copy number variation (CNV analysis were performed with 94 animals, including 21 affected animals, using bovine 777,962 SNP arrays. The GWAS and CNV results revealed two significantly associated regions on bovine chromosomes (BTA 29 and 6, respectively (P=2.19 x 10(-13 and P=5.65 x 10(-6. Subsequent cytogenetic and PCR analyses demonstrated that homozygosity of a ~500 kb chromosomal segment translocated from BTA6 to BTA29 (Cs29 allele is the underlying genetic mechanism responsible for gonadal hypoplasia. The duplicated segment includes the KIT gene that is known to regulate the migration of germ cells and precursors of melanocytes. This duplication is also one of the two translocations associated with colour sidedness in various cattle breeds.

  9. Le Fort I distraction using internal devices for maxillary hypoplasia in patients with cleft lip, palate, and alveolus: complications and their prevention and management.

    Science.gov (United States)

    Mitsukawa, Nobuyuki; Satoh, Kaneshige; Morishita, Tadashi

    2010-09-01

    In recent years, advancement has been made in distraction osteogenesis in the facial area. It has been applied actively to treat maxillary hypoplasia in patients with cleft lip, palate, and alveolus. Le Fort I distraction using internal devices does not lead to disability in daily living, including during the retention period, and has low surgical invasiveness, facile management, and superior aesthetics. Thus, there have been occasional reports on this procedure in recent years. Because an internal device is unidirectional, the greatest disadvantage is the inability to adjust the direction of distraction after its placement. However, past reports have emphasized its advantages, and its complications have rarely been discussed. We performed Le Fort I distraction using internal devices on 15 young patients. Our results showed notable complications in a few cases. When serial cephalometric analysis was performed after maxillary distraction, it demonstrated that the maxilla assumes various three-dimensional distraction morphologies. In particular, cases with insufficient bone grafting of alveolar clefts developed collapse mainly in the alveolar cleft region during postoperative distraction. Mobility and deviation of the maxillary bone fragment occurred. We implemented preventative measures against complications such as using modifications to place the devices parallel on the left and right sides and using a bite splint for distraction. These measures produced improved outcomes, and we describe here the details.

  10. A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

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    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.

  11. Enamel hypoplasia in the deciduous teeth of great apes: variation in prevalence and timing of defects.

    Science.gov (United States)

    Lukacs, J R

    2001-11-01

    The prevalence of enamel hypoplasia in the deciduous teeth of great apes has the potential to reveal episodes of physiological stress in early stages of ontogenetic development. However, little is known about enamel defects of deciduous teeth in great apes. Unresolved questions addressed in this study are: Do hypoplastic enamel defects occur with equal frequency in different groups of great apes? Are enamel hypoplasias more prevalent in the deciduous teeth of male or female apes? During what phase of dental development do enamel defects tend to form? And, what part of the dental crown is most commonly affected? To answer these questions, infant and juvenile skulls of two sympatric genera of great apes (Gorilla and Pan) were examined for dental enamel hypoplasias. Specimens from the Powell-Cotton Museum (Quex Park, UK; n = 107) are reported here, and compared with prior findings based on my examination of juvenile apes at the Cleveland Museum of Natural History (Hamman-Todd Collection; n = 100) and Smithsonian Institution (National Museum of Natural History; n = 36). All deciduous teeth were examined by the author with a x10 hand lens, in oblique incandescent light. Defects were classified using Fédération Dentaire International (FDI)/Defects of Dental Enamel (DDE) standards; defect size and location on the tooth crown were measured and marked on dental outline charts. Enamel defects of ape deciduous teeth are most common on the labial surface of canine teeth. While deciduous incisor and molar teeth consistently exhibit similar defects with prevalences of approximately 10%, canines average between 70-75%. Position of enamel defects on the canine crown was analyzed by dividing it into three zones (apical, middle, and cervical) and calculating defect prevalence by zone. Among gorillas, enamel hypoplasia prevalence increases progressively from the apical zone (low) to the middle zone to the cervical zone (highest), in both maxillary and mandibular canine teeth

  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. 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...

  14. Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

    International Nuclear Information System (INIS)

    Mistry, Kewal A.; Suthar, Pokhraj P.; Bhesania, Siddharth R.; Patel, Ankitkumar

    2015-01-01

    Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity

  15. Anatomia del nervo faciale

    OpenAIRE

    Barbut , J.; Tankere , F.; Bernat , I.

    2017-01-01

    International audience; Il nervo faciale è al centro della pratica quotidiana in oto-rino-laringoiatria. La sua singolare fisiologia e la sua patologia fanno di questo paio di nervi cranici un soggetto appassionante in cui alcuni si sono specializzati. La precisa conoscenza della sua anatomia, il cui percorso è tortuoso e presenta molte relazioni con altri elementi nobili, è un prerequisito indispensabile per il suo approccio, sia in chirurgia cervicale che in quella otologica che in quella n...

  16. Facial Symmetry: An Illusion?

    Directory of Open Access Journals (Sweden)

    Naveen Reddy Admala

    2013-01-01

    Materials and methods: A sample of 120 patients (60 males and 60 females; mean age, 15 years; range, 16-22 years who had received orthodontic clinical examination at AME′s Dental College and Hospital were selected. Selection was made in such a way that following malocclusions with equal sexual distribution was possible from the patient database. Patients selected were classified into skeletal Class I (25 males and 25 females, Class II (25 males and 25 females and Class III (10 males and 10 females based on ANB angle. The number was predecided to be the same and also was based on the number of patients with following malocclusions reported to the department. Differences in length between distances from the points at which ear rods were inserted to the facial midline and the perpendicular distance from the softtissue menton to the facial midline were measured on a frontofacial photograph. Subjects with a discrepancy of more than three standard deviations of the measurement error were categorized as having left- or right-sided laterality. Results: Of subjects with facial asymmetry, 74.1% had a wider right hemiface, and 51.6% of those with chin deviation had left-sided laterality. These tendencies were independent of sex or skeletal jaw relationships. Conclusion: These results suggest that laterality in the normal asymmetry of the face, which is consistently found in humans, is likely to be a hereditary rather than an acquired trait.

  17. 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.

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

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    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.

  19. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

  20. [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.

  1. 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.

  2. The use of internal maxillary distraction for maxillary hypoplasia: a preliminary report.

    Science.gov (United States)

    Van Sickels, Joseph E; Madsen, Mathew J; Cunningham, Larry L; Bird, Douglas

    2006-12-01

    Distraction osteogenesis is a useful alternative to advance the maxilla in complicated cases of maxillary hypoplasia. The purpose of this article is to review the workup, experience, and preliminary results with the use of internal distraction osteogenesis for maxillary hypoplasia at one teaching institution. Over a 5-year period, more than 300 patients with craniofacial and dentofacial defects have undergone oral and maxillofacial surgery at our center to correct their skeletal discrepancies. Of these, 10 have had maxillary distraction osteogenesis done with internal distractors. Follow-up of 6 months or more was available for 8 patients. Stereolithographic models were used to bend distractors prior to surgery in 6 patients. Latency prior to the start of distraction was 3 to 7 days and varied with the age of the patient. Distraction occurred at approximately 1 mm per day with an average distraction length of 8.5 mm (range, 6-10 mm). Excellent occlusal results were obtained in 5 patients. Major complications including nonunion and failure to achieve acceptable occlusal results were observed in 3 patients. Minor complications including pain and loosening of the distracter devices were observed in 2 patients, but did not appear to affect the esthetic and functional results. Distraction osteogenesis is a useful alternative to traditional orthognathic surgery to treat maxillary hypoplasia. Internal distractions are attractive to patients, but are more difficult to place and can cause discomfort to patients when trying to achieve an ideal primary vector of distraction. Stereolithographic models can help with placement of the device. Changes in design of distractors may help with patient discomfort.

  3. Posterior communicating artery hypoplasia as a risk factor for acute ischemic stroke in the absence of carotid artery occlusion.

    Science.gov (United States)

    Chuang, Yu-Ming; Liu, Chih-Yang; Pan, Po-Jung; Lin, Ching-Po

    2008-12-01

    Posterior communicating artery (PCoA) hypoplasia is a fetal variant of the Circle of Willis. According to angiograms and autopsy reports, this congenital variation is found in 6-21% of the general population. PCoA hypoplasia only becomes a risk factor for ischemic stroke in the presence of ipsilateral internal carotid artery (ICA) occlusion. The aim of our study was to determine the role of PCoA hypoplasia in acute ischemic stroke in the absence of ICA occlusion. We examined 310 acute ischemic stroke patients (mean age+/-standard deviation; 68.9+/-15.6 years). Cerebral magnetic resonance angiography was performed within 72 hours of ischemic stroke onset. For comparison, a risk factor-matched control group was recruited. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (CI) to estimate the independent effect of potential risk factors. The overall incidence of PCoA hypoplasia in our experimental group was 19.35% (n=60), which was significantly higher than in the control group (8.20%, n=22, p=0.036, OR, 3.21; 95% CI, 1.43-9.62). The most common ischemic event was ipsilateral thalamic lacunar infarctions with or without occipital lobe involvement. Based on our results, PCoA hypoplasia appears to be a contributor to the risk of ischemic stroke, even in the absence of ICA occlusion. This risk is especially pronounced for strokes involving arteries that penetrate the thalamus.

  4. Prenatal and neonatal variables associated with enamel hypoplasia in deciduous teeth in low birth weight preterm infants

    Directory of Open Access Journals (Sweden)

    Kátia Maria Dmytraczenko Franco

    2007-12-01

    Full Text Available This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW and a matched control group of term children with normal birth weight (NBW. The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP. FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE, 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result.

  5. Management of Cleft Maxillary Hypoplasia with Anterior Maxillary Distraction: Our Experience.

    Science.gov (United States)

    Chacko, Tojan; Vinod, Sankar; Mani, Varghese; George, Arun; Sivaprasad, K K

    2014-12-01

    Maxillary hypoplasia is a common developmental problem in cleft lip and palate deformities. Since 1970s these deformities have traditionally been corrected by means of orthognathic surgery. Management of skeletal deformities in the maxillofacial region has been an important challenge for maxillofacial surgeons and orthodontists. Distraction osteogenesis is a surgical technique that uses body's own repairing mechanisms for optimal reconstruction of the tissues. We present four cases of anterior maxillary distraction osteogenesis with tooth borne distraction device-Hyrax, which were analyzed retrospectively for the efficacy of the tooth borne device-Hyrax and skeletal stability of distracted anterior maxillary segment.

  6. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

    2013-10-15

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  7. Schizencephaly with optic nerve hypoplasia simulating septo-optic dysplasia and other syndromes

    International Nuclear Information System (INIS)

    Osborn, R.E.; Byrd, S.E.

    1988-01-01

    Three patients with fused-lip schizencephaly with optic nerve hypoplasia were evaluated radiographically. The computed tomographic and magnetic resonance findings demonstrated unilateral or bilateral gray matter lined clefts in the cerebral hemisphere which allowed differentiation from the clinical diagnosis of septo-optic dysplasia in each case. Schizencephaly has also been mistakenly labelled as part of a syndrome known as the syndrome of absence of the septum pellucidum with porencephalies and as heterotopias with absence of the septum pellucidum. 15 refs.; 3 figs

  8. Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

    Science.gov (United States)

    Castilla-Cortázar, Inma; Rodríguez De Ita, Julieta; Martín-Estal, Irene; Castorena, Fabiola; Aguirre, Gabriel A; García de la Garza, Rocío; Elizondo, Martha I

    2017-02-01

    Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    International Nuclear Information System (INIS)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum; Ryu, Jeong Ah; Bae, Ji Yoon

    2013-01-01

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  10. 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)

  11. Severe hypoplasia of the omasal laminae in a Japanese Black steer with chronic bloat--a case report.

    Science.gov (United States)

    Takagi, Mitsuhiro; Mukai, Shuhei; Fushimi, Yasuo; Matsushita, Kouhei; Miyoshi, Nobuaki; Yasuda, Nobuhiro; Kitajima, Hideo; Takamure, Senro; Matsushita, Toshihiko; Kitamura, Nobuo; Deguchi, Eisaburo

    2007-12-01

    An 11-month-old Japanese Black steer with chronic bloat underwent clinical and histological analyses. During the observation period, it showed normal appetite and fecal volume but persistent chronic bloat symptoms. Compared to controls, the steer's feces contained undigested large straws. Necropsy revealed normal rumen, reticulum, and abomasum but a small omasum. The rumen, reticulum, and abomasum mucosa was normal, with well-developed ruminal papillae. However, severe hypoplasia of the omasal laminae was observed along with hypoplasia reticular groove and ruminoreticular fold. The contents of the reticulum, omasum, and abomasums comprised undigested large sized hay particles. The omasum papillae showed no pathological abnormalities. This is a rare case of a steer with chronic bloat probably caused by severe hypoplasia of the omasal laminae.

  12. 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.

  13. [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,

  14. The Infant with Aortic Arch Hypoplasia and Small Left Heart Structures: Echocardiographic Indices of Mitral and Aortic Hypoplasia Predicting Successful Biventricular Repair.

    Science.gov (United States)

    Plymale, Jennifer M; Frommelt, Peter C; Nugent, Melodee; Simpson, Pippa; Tweddell, James S; Shillingford, Amanda J

    2017-08-01

    In infants with aortic arch hypoplasia and small left-sided cardiac structures, successful biventricular repair is dependent on the adequacy of the left-sided structures. Defining accurate thresholds of echocardiographic indices predictive of successful biventricular repair is paramount to achieving optimal outcomes. We sought to identify pre-operative echocardiographic indices of left heart size that predict intervention-free survival in infants with small left heart structures undergoing primary aortic arch repair to establish biventricular circulation (BVC). Infants ≤2 months undergoing aortic arch repair from 1999 to 2010 with aortic and/or mitral valve hypoplasia, (Z-score ≤-2) were included. Pre-operative and follow-up echocardiograms were reviewed. Primary outcome was successful biventricular circulation (BVC), defined as freedom from death, transplant, or single ventricular conversion at 1 year. Need for catheter based or surgical re-intervention (RI), valve annular growth, and significant late aortic or mitral valve obstruction were additional outcomes. Fifty one of 73 subjects (79%) had successful BVC and were free of RI at 1 year. Seven subjects failed BVC; four of those died. The overall 1 year survival for the cohort was 95%. Fifteen subjects underwent a RI but maintained BVC. In univariate analysis, larger transverse aorta (p = 0.006) and aortic valve (p = 0.02) predicted successful BVC without RI. In CART analysis, the combination of mitral valve (MV) to tricuspid valve (TV) ratio ≤0.66 with an aortic valve (AV) annulus Z-score ≤-3 had the greatest power to predict BVC failure (sensitivity 71%, specificity 94%). In those with successful BVC, the combination of both AV and MV Z-score ≤-2.5 increased the odds of RI (OR 3.8; CI 1.3-11.4). Follow-up of non-RI subjects revealed improvement in AV and MV Z-score (median AV annulus changed over time from -2.34 to 0.04 (p indices. In this complex population, 1 year survival is high, but

  15. Treatment of Severe Maxillary Hypoplasia With Combined Orthodontics and Distraction Osteogenesis.

    Science.gov (United States)

    Lucchese, Alessandra; Albertini, Paolo; Asperio, Paolo; Manuelli, Maurizio; Gastaldi, Giorgio

    2018-01-05

    Distraction osteogenesis (DO) is a technique that allows the generation of new bone in a gap between 2 vascularized bone surfaces in response to the application of graduated tensile stress across the bone gap.Distraction osteogenesis has become a routine treatment of choice to correct skeletal deformities and severe bone defects in the craniofacial complex over the past decade. Distraction osteogenesis has been successfully chosen in lengthening the maxilla and the mandible; in the maxilla and recently in the mandible, the jawbones have been distracted and widened transversely to relieve severe anterior dental crowding and transverse discrepancies between the dental arches.Distraction osteogenesis for maxillary advancement started in 1993 and is now widely used, especially in patients with skeletal Class III malocclusion caused by maxillary hypoplasia.The aim of this study was to present the efficiency of combined orthodontic and DO in the severe maxillary hypoplasia.A 35-year-old Italian man presented to our clinical practice with the chief complaint of esthetic and functionally problems because of skeletal Class III malocclusion with anterior crossbite.Considering that the severity of the skeletal discrepancy is remarkable but compensated by the DO potential, the combined orthodontic and DO treatment was considered adequate, like less invasive and equally effective.It was obtained a good alignment with the upper and lower arch dental alveolar maxillary advancement that allowed to correct the sagittal relationships.The patient was satisfied for the treatment results and had considerable improvement in his self-esteem.

  16. Liver segment IV hypoplasia as a risk factor for bile duct injury.

    Science.gov (United States)

    Mercado, Miguel Angel; Franssen, Bernardo; Arriola, Juan Carlos; Garcia-Badiola, Artemio; Arámburo, Rigoberto; Elnecavé, Alejandro; Cortés-González, Rubén

    2011-09-01

    Bile duct injury remains constant in the era of laparoscopic cholecystectomy and misidentification of structures remains one of the most common causes of such injuries. Abnormalities in liver segment IV, which is fully visible during laparoscopic cholecystectomy, may contribute to misidentification as proposed herein. We describe the case of a 36-year-old female who had a bile duct injury during a laparoscopic cholecystectomy where the surgeon noticed an unusually small distance between the gallbladder and the round ligament. We define hypoplasia of liver segment IV as well as describe the variation of the biliary anatomy in the case. We also intend to fit it in a broader spectrum of developmental anomalies that have both hyopoplasia of some portion of the liver and variations in gallbladder and bile duct anatomy that may contribute to bile duct injury. To our knowledge, hypoplasia of liver segment IV has not been suggested in the literature as a risk factor for bile duct injury except in the extreme case of a left-sided gallbladder. Surgeons should be vigilant during laparoscopic cholecystectomy when they become aware of an unusually small distance between the gallbladder bed and the round ligament prior to beginning their dissection, variations in the common bile duct and cystic duct should be expected.

  17. Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty.

    Science.gov (United States)

    Moslerová, Veronika; Dadáková, Martina; Dupej, Ján; Hoffmannova, Eva; Borský, Jiří; Černý, Miloš; Bejda, Přemysl; Kočandrlová, Karolína; Velemínská, Jana

    2018-05-01

    To evaluate facial asymmetry changes in pre-school patients with orofacial clefts after neonatal cheiloplasty and to compare facial asymmetry with age-matched healthy controls. The sample consisted of patients with unilateral cleft lip (UCL), unilateral cleft lip and palate (UCLP), and bilateral cleft lip and palate (BCLP). The patients were divided in two age groups with a mean age of 3 years (n = 51) and 4.5 years (n = 45), respectively, and 78 age-matched individuals as controls. Three-dimensional (3D) facial scans were analyzed using geometric morphometry and multivariate statistics. Geometric morphometry showed positive deviations from perfect symmetry on the right side of the forehead in the intervention groups and the controls. The UCL groups showed the greatest asymmetric nasolabial area on the cleft-side labia and the contralateral nasal tip. The UCLP group showed, moreover, asymmetry in buccal region due to typical maxillar hypoplasia, which was accentuated in the older group. The BCLP groups showed slightly similar but greater asymmetry than the control groups, except for the philtrum region. Asymmetry of each of the cleft groups significantly differed from the controls. Except for the buccal region in the UCLP and BCLP groups, asymmetry did not significantly increase with age. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. 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

  19. 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.)

  20. 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.)

  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. 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. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology

    Energy Technology Data Exchange (ETDEWEB)

    Lipson, A.; Sholler, G.; Issacs, D. [Royal Alexandra Hospital for Children, Sydney (Australia)] [and others

    1996-11-11

    We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. 58 refs., 3 figs.

  4. 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

  5. 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

  6. 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. ...

  7. 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.

  8. Persistent idiopathic facial pain

    DEFF Research Database (Denmark)

    Maarbjerg, Stine; Wolfram, Frauke; Heinskou, Tone Bruvik

    2017-01-01

    Introduction: Persistent idiopathic facial pain (PIFP) is a poorly understood chronic orofacial pain disorder and a differential diagnosis to trigeminal neuralgia. To address the lack of systematic studies in PIFP we here report clinical characteristics and neuroimaging findings in PIFP. Methods...... pain 7 (13%), hypoesthesia 23 (48%), depression 16 (30%) and other chronic pain conditions 17 (32%) and a low prevalence of stabbing pain 21 (40%), touch-evoked pain 14 (26%) and remission periods 10 (19%). The odds ratio between neurovascular contact and the painful side was 1.4 (95% Cl 0.4–4.4, p = 0.......565) and the odds ratio between neurovascular contact with displacement of the trigeminal nerve and the painful side was 0.2 (95% Cl 0.0–2.1, p = 0.195). Conclusion: PIFP is separated from trigeminal neuralgia both with respect to the clinical characteristics and neuroimaging findings, as NVC was not associated...

  9. 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.

  10. [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.

  11. 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

  12. Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs

    DEFF Research Database (Denmark)

    Fredholm, Merete; Larsen, R. C.; Jönsson, M.

    2016-01-01

    Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination. A 7.8-kb intronic dele...

  13. 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.

  14. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

  15. Isolated left-sided pulmonary artery agenesis with left lung hypoplasia: A report of two cases

    Directory of Open Access Journals (Sweden)

    V Govindaraj

    2017-01-01

    Full Text Available Unilateral absence of pulmonary artery or pulmonary artery agenesis (UAPA is a rare congenital malformation that can present as an isolated lesion or in association with other cardiac anomalies. Though congenital, presentation in adults are also reported. Most common presentation in adults is of exercise intolerance. The developing lung on the affected side is hypoplastic. Diagnosis of UAPA is established by imaging methods like CT and MRI . There is no specific treatment for this condition. Treatment depends on patients symptomatology, presence of pulmonary hypertension and collateral circulation. Presence of pulmonary hypertension carries a bad prognosis. We present two adult patients with isolated left sided unilateral pulmonary artery agenesis with ipsilateral lung hypoplasia. The diagnosis was confirmed by CT chest and perfusion scan.

  16. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain

    Energy Technology Data Exchange (ETDEWEB)

    Son, YeNa; Jin, Wook; Park, So Young [Kyung Hee University Hospital at Gangdong, Department of Radiology, 892, Dongnam-ro, Gangdong-gu, Seoul (Korea, Republic of); Ryu, Kyung Nam; Park, Ji Seon [Kyung Hee University Hospital, Department of Radiology, 23 Kyunghee-daero, Dongdaemun-gu, Seoul (Korea, Republic of)

    2017-03-15

    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis. (orig.)

  17. Perceptual Speech Assessment After Anterior Maxillary Distraction in Patients With Cleft Maxillary Hypoplasia.

    Science.gov (United States)

    Richardson, Sunil; Seelan, Nikkie S; Selvaraj, Dhivakar; Khandeparker, Rakshit V; Gnanamony, Sangeetha

    2016-06-01

    To assess speech outcomes after anterior maxillary distraction (AMD) in patients with cleft-related maxillary hypoplasia. Fifty-eight patients at least 10 years old with cleft-related maxillary hypoplasia were included in this study irrespective of gender, type of cleft lip and palate, and amount of required advancement. AMD was carried out in all patients using a tooth-borne palatal distractor by a single oral and maxillofacial surgeon. Perceptual speech assessment was performed by 2 speech language pathologists preoperatively, before placement of the distractor device, and 6 months postoperatively using the scoring system of Perkins et al (Plast Reconstr Surg 116:72, 2005); the system evaluates velopharyngeal insufficiency (VPI), resonance, nasal air emission, articulation errors, and intelligibility. The data obtained were tabulated and subjected to statistical analysis using Wilcoxon signed rank test. A P value less than .05 was considered significant. Eight patients were lost to follow-up. At 6-month follow-up, improvements of 62% (n = 31), 64% (n = 32), 50% (n = 25), 68% (n = 34), and 70% (n = 35) in VPI, resonance, nasal air emission, articulation, and intelligibility, respectively, were observed, with worsening of all parameters in 1 patient (2%). The results for all tested parameters were highly significant (P ≤ .001). AMD offers a substantial improvement in speech for all 5 parameters of perceptual speech assessment. Copyright © 2016 The American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    International Nuclear Information System (INIS)

    Bruckheimer, Elchanan; Dagan, Tamir; Atar, Eli; Schwartz, Michael; Kachko, Ludmila; Superina, Riccardo; Amir, Gabriel; Shapiro, Rivka; Birk, Einat

    2013-01-01

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by ∼50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5–13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2–8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 ± 11.3 to 10.8 ± 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 ± 0.5 to 4.0 ± 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 ± 53.6 to 65.7 ± 9.6 μmol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia

  19. X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

    Science.gov (United States)

    Ismail, Heba M; Rincon, Marielisa

    2014-07-01

    Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

  20. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    Energy Technology Data Exchange (ETDEWEB)

    Bruckheimer, Elchanan, E-mail: elchananb@bezeqint.net; Dagan, Tamir [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Atar, Eli; Schwartz, Michael [Schneider Children' s Medical Center Israel, Section of Radiology (Israel); Kachko, Ludmila [Schneider Children' s Medical Center Israel, Section of Anesthesiology (Israel); Superina, Riccardo; Amir, Gabriel [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Shapiro, Rivka [Schneider Children' s Medical Center Israel, Section of Gastroenterology (Israel); Birk, Einat [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel)

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  1. Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia.

    Science.gov (United States)

    Ramakrishnaiah, Raghu H; Shelton, Julie B; Glasier, Charles M; Phillips, Paul H

    2014-01-01

    It is essential to identify hypopituitarism in children with optic nerve hypoplasia (ONH) because they are at risk for developmental delay, seizures, or death. The purpose of this study is to determine the reliability of neurohypophyseal abnormalities on magnetic resonance imaging (MRI) for the detection of hypopituitarism in children with ONH. Cross-sectional study. One hundred one children with clinical ONH who underwent MRI of the brain and orbits and a detailed pediatric endocrinologic evaluation. Magnetic resonance imaging studies were performed on 1.5-Tesla scanners. The imaging protocol included sagittal T1-weighted images, axial fast fluid-attenuated inversion-recovery/T2-weighted images, and diffusion-weighted images of the brain. Orbital imaging included fat-saturated axial and coronal images and high-resolution axial T2-weighted images. The MRI studies were reviewed by 2 pediatric neuroradiologists for optic nerve hypoplasia, absent or ectopic posterior pituitary, absent pituitary infundibulum, absent septum pellucidum, migration anomalies, and hemispheric injury. Medical records were reviewed for clinical examination findings and endocrinologic status. All patients underwent a clinical evaluation by a pediatric endocrinologist and a standardized panel of serologic testing that included serum insulin-like growth factor-1, insulin-like growth factor binding protein-3, prolactin, cortisol, adrenocorticotropic hormone, thyroid-stimulating hormone, and free thyroxine levels. Radiologists were masked to patients' endocrinologic status and funduscopic findings. Sensitivity and specificity of MRI findings for the detection of hypopituitarism. Neurohypophyseal abnormalities, including absent pituitary infundibulum, ectopic posterior pituitary bright spot, and absent posterior pituitary bright spot, occurred in 33 children. Magnetic resonance imaging disclosed neurohypophyseal abnormalities in 27 of the 28 children with hypopituitarism (sensitivity, 96%). A

  2. 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

  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. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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...

  10. Chin region: management of grooves and mandibular hypoplasia with alloplastic implants.

    Science.gov (United States)

    Mittelman, Harry; Spencer, Jared R; Chrzanowski, David S

    2007-11-01

    Using just a small number of alloplastic extended mandibular implants can fulfill more than 95% of the needs of the facial plastic surgeon in chin and prejowl augmentation to restore balance to a patient's jawline. Current chin implants are artistically designed to impart good form and fit and give significant improvement for a somewhat uncomplicated procedure.

  11. Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome.

    Science.gov (United States)

    Panuganti, Bharat A; Leach, Matthew; Antisdel, Jastin

    2015-01-01

    Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Otolaryngologists should be aware of the possibility of occult elevations in ICP and sinonasal anatomic

  12. Remembering facial configurations.

    Science.gov (United States)

    Bruce, V; Doyle, T; Dench, N; Burton, M

    1991-02-01

    Eight experiments are reported showing that subjects can remember rather subtle aspects of the configuration of facial features to which they have earlier been exposed. Subjects saw several slightly different configurations (formed by altering the relative placement of internal features of the face) of each of ten different faces, and they were asked to rate the apparent age and masculinity-femininity of each. Afterwards, subjects were asked to select from pairs of faces the configuration which was identical to one previously rated. Subjects responded strongly to the central or "prototypical" configuration of each studied face where this was included as one member of each test pair, whether or not it had been studied (Experiments 1, 2 and 4). Subjects were also quite accurate at recognizing one of the previously encountered extremes of the series of configurations that had been rated (Experiment 3), but when unseen prototypes were paired with seen exemplars subjects' performance was at chance (Experiment 5). Prototype learning of face patterns was shown to be stronger than that for house patterns, though both classes of patterns were affected equally by inversion (Experiment 6). The final two experiments demonstrated that preferences for the prototype could be affected by instructions at study and by whether different exemplars of the same face were shown consecutively or distributed through the study series. The discussion examines the implications of these results for theories of the representation of faces and for instance-based models of memory.

  13. Treatment of severe maxillary cleft hypoplasia in a case with missing premaxilla with anterior maxillary distraction using tooth-borne hyrax appliance

    Directory of Open Access Journals (Sweden)

    Akshai Shetty

    2015-01-01

    Full Text Available Cleft orthodontics generally poses a challenge and a missing premaxilla adds to the difficulty in managing them. The lack of bone support and anterior teeth in a case with missing premaxilla accounts not only for difficulty in rehabilitation but also in increasing the maxillary hypoplasia. This article presents a case report where planned orthodontic and surgical management using distraction has helped treat a severe maxillary hypoplasia in a patient with missing premaxilla. The treatment plan and method can be used to treat severe maxillary hypoplasia and yield reasonably acceptable results for such patients.

  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. [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.

  16. 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.

  17. Tooth-Borne Anterior Maxillary Distraction for Cleft Maxillary Hypoplasia: Our Experience With 147 Patients.

    Science.gov (United States)

    Richardson, Sunil; Selvaraj, Dhivakar; Khandeparker, Rakshit V; Seelan, Nikkie S; Richardson, Shweta

    2016-12-01

    To evaluate the results of anterior maxillary distraction for its efficacy and long-term stability in the management of cleft maxillary hypoplasia in a large series of patients with a long-term follow-up extending to 4 years. One hundred sixty-four patients at least 10 years old with cleft maxillary hypoplasia who presented to the authors' unit from January 2009 through October 2014 were evaluated retrospectively, irrespective of gender, type of cleft lip and palate, and amount of advancement needed. Anterior maxillary distraction using a tooth-borne distractor appliance was carried out in all patients and all patients were followed up to 4 years (range, 1 to 4 yr) to evaluate the stability of the procedure and to document any relapse using digitalized lateral cephalograms taken before distraction, immediately after distraction (T2), and at the last follow-up visit (T3; range, 1 to 4 yr). Seventeen patients were subsequently lost to follow-up; therefore, a complete set of records was available for 147 patients. In a subset of 50 patients, perceptual speech assessment was carried out preoperatively and 6 months postoperatively by 2 speech pathologists using the Perkins scoring system that allowed the evaluation of 5 parameters (velopharyngeal insufficiency, resonance, nasal air emission, articulation, and intelligibility). None of these patients underwent speech therapy during the course of evaluation. The development of complications intra- or postoperatively was noted. The data were tabulated and analyzed. An advancement ranging from 4.0 to 13.1 mm (mean, 9.42 mm) was achieved in all patients. One hundred forty patients (95.23%) showed stable results on lateral cephalograms and when T2 values were compared with T3 values. Seven patients (4.76%) exhibited skeletal relapse in various linear and angular measurements assessed on lateral cephalograms. At 6-month follow-up, improvements of 62% (n = 31), 64% (n = 32), 50% (n = 25), 68% (n = 34), and 70% (n

  18. [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.

  19. 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.

  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. Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

    Directory of Open Access Journals (Sweden)

    Suzan Sahana

    2013-01-01

    Full Text Available Background: It is axiomatic that Pediatric dental anomalies and enamel hypoplasia (E.H are routinely encountered in primary dentition and early detection and prudent management of the condition facilitates normal occlusal development. Objectives: To determine the prevalence of various dental anomalies and enamel hypoplasia in preschool children between two to six years of age. Materials & Method: A total of 1898 children, between two to six years were randomly selected and screened for dental anomalies and enamel hypoplasia The chi square test was used to analyze the data statistically. Results: The overall prevalence rate of dental anomalies and enamel hypoplasia in this study was 0.63% and 8.95% respectively. Double teeth were the most frequently reported dental anomaly while supernumerary teeth were least reported. None of them reported with hypodontia.

  2. 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...

  3. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    International Nuclear Information System (INIS)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de; Willems, Endry

    2012-01-01

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 (±7.33), 36.34 (±7.13) for L4 and 34.63 (±6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 (±7.37), 36.90 (±6.99) for L4 and 33.14 (±6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 ± 3.9%, the ratio for the hypoplastic L5 group was 89.9 ± 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  4. A detailed study of enamel hypoplasia in a post-medieval adolescent of known age and sex.

    Science.gov (United States)

    King, T; Hillson, S; Humphrey, L T

    2002-01-01

    Developmental disturbances that affect the secretion of enamel matrix can cause defective enamel structure. Linear hypoplasia is one type of enamel defect and manifests itself as a furrow that runs around the circumference of the tooth. Such defects range in size from the microscopic to those that are several millimetres wide. Enamel defects have been widely used by anthropologists for the investigation of growth disruptions in past populations, as they provide a permanent record of disturbances during much of a child's developmental period. This is a detailed case study of enamel growth disruptions in a 15-year-old female from the 18th and 19th century crypt of Christ Church, Spitalfields. The method used relates linear enamel hypoplasia to the incremental structures in the enamel surface, the perikymata, in order to investigate the timing of growth disturbances. Linear enamel hypoplasia was defined here as a greater than expected spacing between neighbouring pairs of perikymata. In addition, this study used recently published histological data on the precise timing of tooth development to establish chronologies for growth disruptions. Defects were matched in at least two teeth with overlapping developmental schedules to ensure that systemic disturbances, as opposed to localised traumas, were identified. Thirteen enamel defects were matched between five different teeth from the same individual from Spitalfields. Most linear enamel hypoplasias were evident on the anterior dentition. Using an 8-day average perikymata periodicity, the age at first defect in this individual was calculated as 1.5 years and the last growth disruption occurred when she was 4.6 years of age. The distribution of the defects was examined to identify any seasonal pattern in the occurrence of the growth disturbances.

  5. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    Energy Technology Data Exchange (ETDEWEB)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de [UZ Leuven, Campus Gasthuisberg, Department of Radiology, Leuven (Belgium); Willems, Endry [ZOL, Department of Radiology, Genk (Belgium)

    2012-08-15

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 ({+-}7.33), 36.34 ({+-}7.13) for L4 and 34.63 ({+-}6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 ({+-}7.37), 36.90 ({+-}6.99) for L4 and 33.14 ({+-}6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 {+-} 3.9%, the ratio for the hypoplastic L5 group was 89.9 {+-} 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  6. 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.

  7. 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.

  8. 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.

  9. Facial aging: A clinical classification

    Directory of Open Access Journals (Sweden)

    Shiffman Melvin

    2007-01-01

    Full Text Available The purpose of this classification of facial aging is to have a simple clinical method to determine the severity of the aging process in the face. This allows a quick estimate as to the types of procedures that the patient would need to have the best results. Procedures that are presently used for facial rejuvenation include laser, chemical peels, suture lifts, fillers, modified facelift and full facelift. The physician is already using his best judgment to determine which procedure would be best for any particular patient. This classification may help to refine these decisions.

  10. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate.

    Science.gov (United States)

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure.

  11. Detection of increased frequency of thyroid hypoplasia in subjects irradiated in utero as the results of Chernobyl catastrophe

    Energy Technology Data Exchange (ETDEWEB)

    Drozd, V.; Danilova, L.; Lushchyk, M.; Leonova, T.; Platonova, T. [International Fund Arnica, Minsk (Belarus); Grigorovich, A.; Sivuda, V. [Brest Regional Endocrinological Dispensary, Brest (Belarus); Branovan, I. [Chernobyl Project, New-York (United States); Biko, I.; Reiners, C. [Clinic and Policlinic of Nuclear Medicine, University of Wurzburg, Wursburg (Germany)

    2012-07-01

    For the 24 years passed after the Chernobyl catastrophe a significant experience in estimation of medical consequences of thyroid irradiation among Belarus patients had been accumulated. The aim of our screening of ultrasonic examination was the detection of the thyroid hypoplasia prevalence in the regions affected with radionuclide fallout. Since 2004 to 2007 thyroid ultrasound with volume estimation was performed in 3311 Belarus subjects, living on the areas of Brest region with the different contamination rate density. Examined subjects were divided in 3 groups: 1) irradiated at the age of 1 to 3 years old at the moment of Chernobyl catastrophe, 2) irradiated in utero, and 3) born after the catastrophe. It was revealed that thyroid hypoplasia was detected in 3% of group 1 (out of 1876 persons), in 5, 8% of group 2 (out of 503 persons, P<0.05) and in 1, 7% of the third group (out of 932 persons). The separation of the irradiated in utero subjects (group 2) to subgroups in dependence of the gestation period, showed the highest prevalence of thyroid hypoplasia among the irradiated in the first trimester of gestation: 7, 7% (P<0.05), in the second trimester: 5, 3%, in the third trimester: 4, 7%

  12. Detection of increased frequency of thyroid hypoplasia in subjects irradiated in utero as the results of Chernobyl catastrophe

    International Nuclear Information System (INIS)

    Drozd, V.; Danilova, L.; Lushchyk, M.; Leonova, T.; Platonova, T.; Grigorovich, A.; Sivuda, V.; Branovan, I.; Biko, I.; Reiners, C.

    2012-01-01

    For the 24 years passed after the Chernobyl catastrophe a significant experience in estimation of medical consequences of thyroid irradiation among Belarus patients had been accumulated. The aim of our screening of ultrasonic examination was the detection of the thyroid hypoplasia prevalence in the regions affected with radionuclide fallout. Since 2004 to 2007 thyroid ultrasound with volume estimation was performed in 3311 Belarus subjects, living on the areas of Brest region with the different contamination rate density. Examined subjects were divided in 3 groups: 1) irradiated at the age of 1 to 3 years old at the moment of Chernobyl catastrophe, 2) irradiated in utero, and 3) born after the catastrophe. It was revealed that thyroid hypoplasia was detected in 3% of group 1 (out of 1876 persons), in 5, 8% of group 2 (out of 503 persons, P<0.05) and in 1, 7% of the third group (out of 932 persons). The separation of the irradiated in utero subjects (group 2) to subgroups in dependence of the gestation period, showed the highest prevalence of thyroid hypoplasia among the irradiated in the first trimester of gestation: 7, 7% (P<0.05), in the second trimester: 5, 3%, in the third trimester: 4, 7%

  13. [Bilateral hypoplasia of the internal carotid arteries associated with aneurysm of the right posterior communicating artery. Apropos of a case].

    Science.gov (United States)

    el Khamlichi, A; Amrani, F; el Azzusi, M; el Oufir, M; Khamlichi, A M

    1989-01-01

    The authors report a case of bilateral hypoplasia of the internal carotid arteries associated with aneurysm of the right posterior communicating artery in a 17 year old female patient. This anomaly was discovered following a meningeal haemorrhage, which recurred 18 months later, causing the patient's death. Surgical operation was refused by the patient and her family. Bilateral hypoplasia of the internal carotid arteries is a rare congenital malformation (16 cases have been reported in the literature, our case constitutes the 17th). It is distinguished from aplasia by the presence of a patent but very reduced vascular lumen, while aplasia is associated with vestiges of non-patent vessels. The mechanism of development of such a malformation is unclear: some authors have suggested secondary regression of the internal carotid artery following a phase of normal development, while others consider it to represent arrest of the development of the internal carotid artery, at a given moment in time. The frequency of associated aneurysm would be due to the haemodynamic disruption induced by the malformation, especially as parietal defects are more frequent in a malformed vasculature. Bilateral hypoplasia of the internal carotid arteries may be compatible with normal life for an indefinite period of time due to the development of a large number of collateral vessels. However, the new vasculature is threatened by rupture with meningeal haemorrhage and by acute ischaemia, which would probably involve another aetiological factor.

  14. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    Energy Technology Data Exchange (ETDEWEB)

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi [Kyushu Univ., Fukuoka (Japan)] [and others

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  15. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  16. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

    Science.gov (United States)

    Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A

    2001-11-01

    Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.

  17. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

    Science.gov (United States)

    Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

    2015-11-01

    Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-05

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders.

    Science.gov (United States)

    Dahl, Sara; Wickström, Ronny; Ek, Ulla; Teär Fahnehjelm, Kristina

    2018-03-01

    Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests. Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  20. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

    Science.gov (United States)

    Motil, Kathleen J; Fete, Mary; Fete, Timothy J

    2016-03-01

    Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), and BMI (P < 0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder. © 2016 Wiley Periodicals, Inc.

  1. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    Science.gov (United States)

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning.

  2. Vertebral Artery Hypoplasia and Posterior Circulation Infarction in Patients with Isolated Vertigo with Stroke Risk Factors.

    Science.gov (United States)

    Zhang, Dao Pei; Lu, Gui Feng; Zhang, Jie Wen; Zhang, Shu Ling; Ma, Qian Kun; Yin, Suo

    2017-02-01

    We aimed in this study to investigate the prevalence of vertebral artery hypoplasia (VAH) in a population with isolated vertigo in association with stroke risk factors, to determine whether VAH is an independent risk factor for posterior circulation infarction (PCI). We sequentially enrolled 245 patients with isolated vertigo with at least 1 vascular risk factor, who were divided into PCI and non-PCI groups, according to present signs of acute infarction on diffusion-weighted magnetic resonance imaging. All patients underwent magnetic resonance angiography and cervical contrast-enhanced magnetic resonance angiography to screen for VAH. Univariate and multivariate logistic regression analyses were performed to identify the significant risk factors for PCI. VAH was found in 64 of 245 patients (26%). VAH (odds ratio [OR] = 2.70, 95%confidence interval [CI] 1.17-6.23, P = .020), median stenosis of the posterior circulation (OR = 7.09, 95%CI = 2.54-19.79, P vertigo with PCI complicated by VAH was mainly small-artery occlusion. Our findings suggest that VAH is an independent risk factor for PCI in patients with isolated vertigo with confirmed risk from stroke. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  3. Internal jugular vein thrombosis associated with venous hypoplasia and protein S deficiency revealed by ultrasonography.

    Science.gov (United States)

    Lim, Byung Gun; Kim, Young Min; Kim, Heezoo; Lim, Sang Ho; Lee, Mi Kyoung

    2011-12-01

    A 41-year-old woman, who had no thrombotic risk factors and past history except congenital scoliosis, underwent central venous catheterization (CVC) before correction of the scoliosis. When internal jugular vein (IJV) catheterization using the anatomical landmark technique failed, CVC under ultrasound guidance was tried. As a consequence, thrombosis and hypoplasia of the right IJV were incidentally detected by ultrasonography. Central venous catheters were then successfully placed in other veins under ultrasound guidance. Also, after examinations to rule out the possibility of pulmonary embolism and to clarify the causes of the IJV thrombosis, the patient was found to have protein S deficiency. CVC under ultrasound guidance should be recommended to prevent the failure of cannulation and complications such as thromboembolism in patients who could possibly have anomalies of vessels as a result of anatomical deformities caused by severe scoliosis, even if patients do not have thrombotic risk factors such as a history of central catheter insertion or intravenous drug abuse, cancer, advanced age, cerebral infarction, and left ventricular dysfunction. Also, if venous thrombosis is found in patients without predisposing risk factors, one should ascertain the cause of the hypercoagulable state, for example protein S deficiency, and perform appropriate treatment and prevention of venous thromboembolism.

  4. Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter.

    Science.gov (United States)

    Gupta, Deepak Prasad; Hwang, Jae-Won; Cho, Eui-Sic; Kim, Won; Song, Chang Ho; Chai, Ok Hee

    2017-01-01

    Sonic Hedgehog (Shh) signaling plays a major role in and is essential for regulation, patterning, and proliferation during renal development. Smoothened (Smo) plays a pivot role in transducing the Shh-glioma-associated oncogene Kruppel family member. However, the cellular and molecular mechanism underlying the role of sustained Smo activation in postnatal kidney development is still not clearly understood. Using a conditional knockin mouse model that expresses a constitutively activated form of Smo (SmoM2) upon Homeobox-B7-mediated recombination (Hoxb7-Cre), the effects of Shh signaling were determined in postnatal kidney development. SmoM2;Hoxb7-Cre mutant mice showed growth retardation with a reduction of body weight. Constitutive activation of Smo in the renal collecting ducts caused renal hypoplasia, hydronephrosis, and hydroureter. The parenchymal area and glomerular numbers were reduced, but the glomerular density was increased in SmoM2;Hoxb7-Cre mutant mice. The expression of Patched 1, the receptor of Shh and a downstream target gene of the Shh signaling pathway, was highly restricted and it was upregulated in the inner medullary collecting ducts of the kidney. The proliferative cells in the mesenchyme and collecting ducts were decreased in SmoM2;Hoxb7-Cre mutant mice. This study showed for the first time that sustained Smo inhibits postnatal kidney development by suppressing the proliferation of the mesenchyme and medullary collecting ducts in mice. © 2017 S. Karger AG, Basel.

  5. Spondylolysis and isthmic spondylolisthesis: impact of vertebral hypoplasia on the use of the Meyerding classification.

    Science.gov (United States)

    Niggemann, P; Kuchta, J; Grosskurth, D; Beyer, H K; Hoeffer, J; Delank, K S

    2012-04-01

    Spondylolysis and isthmic spondylolisthesis are common multifactorial disorders. The extent of slipping of the spondylolytic vertebra is considered a major predicator for prognosis and further follow-up. Vertebral hypoplasia is a common finding associated with spondylolysis. The purpose of this study is to evaluate the incidence of hypoplastic vertebral bodies in patients with spondylolysis and in the general population and to analyse the impact of the findings on the measurement and grading of spondylolisthesis. 140 patients with 141 levels of spondylolysis identified by MRI were included in this study. The slippage of the spondylolytic vertebral body and the size in the midline sagittal image were measured and correlated. In addition, a randomised control group was evaluated to test the hypothesis that shortened, hypoplastic vertebral bodies can also be found in the general population. Shortened, hypoplastic vertebrae were found in 50 patients with spondylolysis and none was found in the control group. These shortened vertebrae mimicked spondylolisthesis and in 19 patients the slippage equalled the shortening, thus mimicking spondylolisthesis, although only spondylolysis was present. Sagittal shortening of the spondylolytic vertebra is common and may mimic spondylolisthesis. In order to define and measure spondylolisthesis the shortening of the spondylolytic vertebra has to be taken into account.

  6. Abnormal platelet-derived growth factor signaling accounting for lung hypoplasia in experimental congenital diaphragmatic hernia.

    Science.gov (United States)

    Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

    2010-10-01

    The pathogenesis of pulmonary hypoplasia in congenital diaphragmatic hernia (CDH) is not fully understood. Platelet-derived growth factor A (PDGFA) and platelet-derived growth factor receptor α (PDGFRα) play a crucial role in lung development. It has been reported that PDGF induces H(2)O(2)-production and that oxidative stress may be an important mechanism for the impaired lung development in the nitrofen rat model. We hypothesized that pulmonary expression of PDGFA and PDGFRα is altered in the nitrofen induced CDH model. Pregnant rats received 100 mg nitrofen or vehicle on gestational day 9 (D9) and were sacrificed on D15, D18 or D21. RNA was extracted from fetal left lungs and mRNA levels of PDGFA and PDGFRα were determined using real-time polymerase chain reaction. Immunohistochemistry for protein expression of PDGFA and PDGFRα was performed. Pulmonary H(2)O(2) was measured colorimetrically. mRNA levels of PDGFRα at D15 (4.50 ± 0.87) and PDGFA at D18 (2.90 ± 1.38) were increased in the nitrofen group (P stress during lung development. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

    Energy Technology Data Exchange (ETDEWEB)

    Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1993-05-01

    The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

  8. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Bordon, Victoria; Gennery, Andrew R; Slatter, Mary A; Vandecruys, Els; Laureys, Genevieve; Veys, Paul; Qasim, Waseem; Waseem, Qasim; Friedrich, Wilhelm; Wulfraat, Nico M; Scherer, Franziska; Cant, Andrew J; Fischer, Alain; Cavazzana-Calvo, Marina; Cavazanna-Calvo, Marina; Bredius, Robbert G M; Notarangelo, Luigi D; Mazzolari, Evelina; Neven, Benedicte; Güngör, Tayfun; Tayfun, Güngör

    2010-07-08

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood ( approximately 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.

  9. Serum prolactin concentrations in relation to hypopituitarism and obesity in children with optic nerve hypoplasia.

    Science.gov (United States)

    Vedin, Amy M; Garcia-Filion, Pamela; Fink, Cassandra; Borchert, Mark; Geffner, Mitchell E

    2012-01-01

    The majority of children with optic nerve hypoplasia (ONH) develop hypopituitarism and many also become obese. These associated conditions are a major cause of morbidity and are possibly due to hypothalamic dysfunction. Because mild hyperprolactinemia often occurs in subjects with disorders of the hypothalamus, we examined whether hyperprolactinemia was present in children with ONH during the first 3 years of life and whether it was a marker for hypopituitarism and/or obesity. Data were retrospectively analyzed from a registry study of children with ONH. The initial serum prolactin was obtained prior to age 36 months (n = 125) and compared with pituitary function and body mass index at age 5. 72% of subjects had an elevated initial serum prolactin and 60% had hypopituitarism. An elevated initial prolactin was associated with hypopituitarism (OR 2.58; 95% CI 1.16, 5.73), specifically with growth hormone deficiency (OR 2.77; 95% CI 1.21, 6.34). 31% of subjects had a body mass index ≥ 85th percentile, but this did not correlate with initial hyperprolactinemia. Early hyperprolactinemia correlates with the presence of hypopituitarism in children with ONH, but it is not a reliable prognosticator of hypopituitarism. Additionally, hyperprolactinemia does not predict future weight excess. Copyright © 2012 S. Karger AG, Basel.

  10. EXTRAPULMONARY SEQUESTRATION WITH PULMONARY HYPOPLASIA AND MULTICYSTIC RENAL DYSPLASIA : A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Anita

    2015-05-01

    Full Text Available Pulmonary sequestration is a rare anomaly which consists of the presence of pulmonary tissue that is not attached to the rest of the lung and does not communicate with the trachea. [1] It could be intrapulmonary or extrapulmonary. We report a case of extrapulmonary sequestration with brief review of literature. A 22 years old primigravida underwent an ultrasonography at 24 weeks of gestation which revealed a single live fetus with bilateral pleural effusion, fetal hydrops and the fetal thorax showed mediastinal shift to the right. A hyperechoic mass was present in the left thoracic cavity with a systemic blood supply to it. Termination of pregnancy was advised as the findings were incompatible with life and the fetus autopsied. Significant gross findings were a hypoplastic left lung, a grey - white spongy mass adjacent to the left lung but no t attached to it and present outside the pleural cavity which derived its blood supply via a branch from the thoracic aorta and caused a shift in the mediastinal structures to the right. Both kidneys showed multiple cystic spaces. Microscopically the mass showed multiple cystically dilated alveolar spaces and ducts lined by cuboidal to tall columnar epithelium, the left lung showed features of pulmonary hypoplasia and the microscopic findings in both the kidneys were suggestive of multicystic renal dysplasi a. Hence, it was reported as a case of left sided extrapulmonary sequestration with hypoplastic left lung and bilateral renal cystic dysplasia.

  11. Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies.

    Science.gov (United States)

    Grosås, Siv; Lingaas, Frode; Prestrud, Kristin Wear; Ropstad, Ernst-Otto

    2017-11-07

    To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. Border collie puppies in the age from 5 to 8 weeks. Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8-kb deletion in the gene encoding NHEJ1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly (CEA). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ1 gene, 17 puppies were carriers, and one puppy was genetically affected. A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%. © 2017 American College of Veterinary Ophthalmologists.

  12. 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.

  13. 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.

  14. 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 ...

  15. 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...

  16. 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

  17. Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

    Science.gov (United States)

    Kuroda, Yukiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

    2015-02-01

    Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype. © 2014 Wiley Periodicals, Inc.

  18. 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.

  19. 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.

  20. Facial sculpting and tissue augmentation.

    Science.gov (United States)

    Carruthers, Jean D A; Carruthers, Alastair

    2005-11-01

    Until recently, deep facial sculpting was exclusively the domain of surgical interventions. Recent advances in the available array of dermal and subdermal fillers combined with an esthetic appreciation by both surgeons and nonsurgeons alike of the positive effect of filling the volume-depleted face have led to an expansion in the indications for the use of soft tissue augmenting agents. Subdermal support of the lateral two-thirds of the brow, the nasojugal fold, the malar and buccal fat pads, the lateral lip commissures, and the perioral region, including the pre-jowl sulcus, all restore youthful facial contour and harmony. An important advance in technique is the subdermal rather than the intradermal injection plane. "Instant" facial sculpting giving a brow-lift, cheek-lift, lip expansion, and perioral augmentation is possible using modern soft tissue augmenting agents. The softer, more relaxed appearance contrasts to the somewhat "pulled" appearance of subjects who have had surgical overcorrections. Treatments can be combined with botulinum toxin and other procedures if required. Newer advances in the use of fillers include the use of fillers injected in the subdermal plane for "lunchtime" facial sculpting. Using the modern esthetic filler compounds, which are biodegradable but longer lasting, subjects can have a "rehearsal" treatment or make it ongoing. Some individuals, such as those with human immunodeficiency virus (HIV)-related lipoatrophy or those who desire to obtain a longer-lasting effect, may elect to use a nonbiodegradable filling agent.

  1. Asyndromic Bilateral Transverse Facial Cleft

    African Journals Online (AJOL)

    2013-04-23

    of this atypical cleft is unknown although the frequency ... on Tuesday, April 23, 2013, IP: 41.132.185.55] || Click here to download free Android application for this journal ... Facial cleft remains a source of social anxiety and in the past has lead ...

  2. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  3. Complex Odontome Causing Facial Asymmetry

    Directory of Open Access Journals (Sweden)

    Karthikeya Patil

    2006-01-01

    Full Text Available Odontomas are the most common non-cystic odontogenic lesions representing 70% of all odontogenic tumors. Often small and asymptomatic, they are detected on routine radiographs. Occasionally they become large and produce expansion of bone with consequent facial asymmetry. We report a case of such a lesion causing expansion of the mandible in an otherwise asymptomatic patient.

  4. Mapping and Manipulating Facial Expression

    Science.gov (United States)

    Theobald, Barry-John; Matthews, Iain; Mangini, Michael; Spies, Jeffrey R.; Brick, Timothy R.; Cohn, Jeffrey F.; Boker, Steven M.

    2009-01-01

    Nonverbal visual cues accompany speech to supplement the meaning of spoken words, signify emotional state, indicate position in discourse, and provide back-channel feedback. This visual information includes head movements, facial expressions and body gestures. In this article we describe techniques for manipulating both verbal and nonverbal facial…

  5. Facial Prototype Formation in Children.

    Science.gov (United States)

    Inn, Donald; And Others

    This study examined memory representation as it is exhibited in young children's formation of facial prototypes. In the first part of the study, researchers constructed images of faces using an Identikit that provided the features of hair, eyes, mouth, nose, and chin. Images were varied systematically. A series of these images, called exemplar…

  6. 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 ...

  7. 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...

  8. Magnetoencephalographic study on facial movements

    Directory of Open Access Journals (Sweden)

    Kensaku eMiki

    2014-07-01

    Full Text Available In this review, we introduced our three studies that focused on facial movements. In the first study, we examined the temporal characteristics of neural responses elicited by viewing mouth movements, and assessed differences between the responses to mouth opening and closing movements and an averting eyes condition. Our results showed that the occipitotemporal area, the human MT/V5 homologue, was active in the perception of both mouth and eye motions. Viewing mouth and eye movements did not elicit significantly different activity in the occipitotemporal area, which indicated that perception of the movement of facial parts may be processed in the same manner, and this is different from motion in general. In the second study, we investigated whether early activity in the occipitotemporal region evoked by eye movements was influenced by a face contour and/or features such as the mouth. Our results revealed specific information processing for eye movements in the occipitotemporal region, and this activity was significantly influenced by whether movements appeared with the facial contour and/or features, in other words, whether the eyes moved, even if the movement itself was the same. In the third study, we examined the effects of inverting the facial contour (hair and chin and features (eyes, nose, and mouth on processing for static and dynamic face perception. Our results showed the following: (1 In static face perception, activity in the right fusiform area was affected more by the inversion of features while that in the left fusiform area was affected more by a disruption in the spatial relationship between the contour and features, and (2 In dynamic face perception, activity in the right occipitotemporal area was affected by the inversion of the facial contour.

  9. [Neurological disease and facial recognition].

    Science.gov (United States)

    Kawamura, Mitsuru; Sugimoto, Azusa; Kobayakawa, Mutsutaka; Tsuruya, Natsuko

    2012-07-01

    To discuss the neurological basis of facial recognition, we present our case reports of impaired recognition and a review of previous literature. First, we present a case of infarction and discuss prosopagnosia, which has had a large impact on face recognition research. From a study of patient symptoms, we assume that prosopagnosia may be caused by unilateral right occipitotemporal lesion and right cerebral dominance of facial recognition. Further, circumscribed lesion and degenerative disease may also cause progressive prosopagnosia. Apperceptive prosopagnosia is observed in patients with posterior cortical atrophy (PCA), pathologically considered as Alzheimer's disease, and associative prosopagnosia in frontotemporal lobar degeneration (FTLD). Second, we discuss face recognition as part of communication. Patients with Parkinson disease show social cognitive impairments, such as difficulty in facial expression recognition and deficits in theory of mind as detected by the reading the mind in the eyes test. Pathological and functional imaging studies indicate that social cognitive impairment in Parkinson disease is possibly related to damages in the amygdalae and surrounding limbic system. The social cognitive deficits can be observed in the early stages of Parkinson disease, and even in the prodromal stage, for example, patients with rapid eye movement (REM) sleep behavior disorder (RBD) show impairment in facial expression recognition. Further, patients with myotonic dystrophy type 1 (DM 1), which is a multisystem disease that mainly affects the muscles, show social cognitive impairment similar to that of Parkinson disease. Our previous study showed that facial expression recognition impairment of DM 1 patients is associated with lesion in the amygdalae and insulae. Our study results indicate that behaviors and personality traits in DM 1 patients, which are revealed by social cognitive impairment, are attributable to dysfunction of the limbic system.

  10. 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.

  11. 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.

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. Frequency and developmental timing of linear enamel hypoplasia defects in Early Archaic Texan hunter-gatherers

    Directory of Open Access Journals (Sweden)

    J. Colette Berbesque

    2018-02-01

    Full Text Available Digital photographs taken under controlled conditions were used to examine the incidence of linear enamel hypoplasia defects (LEHs in burials from the Buckeye Knoll archaeological site (41VT98 Victoria county, Texas, which spans the Early to Late Archaic Period (ca. 2,500–6,500 BP uncorrected radiocarbon. The majority (68 of 74 burials date to the Texas Early Archaic, including one extremely early burial dated to 8,500 BP. The photogrammetric data collection method also results in an archive for Buckeye Knoll, a significant rare Archaic period collection that has been repatriated and reinterred. We analyzed the incidence and developmental timing of LEHs in permanent canines. Fifty-nine percent of permanent canines (n = 54 had at least one defect. There were no significant differences in LEH frequency between the maxillary and mandibular canines (U = 640.5, n1 = 37, n2 = 43, p = .110. The sample studied (n = 92 permanent canines had an overall mean of 0.93 LEH defect per tooth, with a median of one defect, and a mode of zero defects. Average age at first insult was 3.92 (median = 4.00, range = 2.5–5.4 and the mean age of all insults per individual was 4.18 years old (range = 2.5–5.67. Age at first insult is consistent with onset of weaning stress—the weaning age range for hunter-gatherer societies is 1–4.5. Having an earlier age of first insult was associated with having more LEHs (n = 54, rho = −0.381, p = 0.005.

  17. Facial Expression at Retrieval Affects Recognition of Facial Identity

    Directory of Open Access Journals (Sweden)

    Wenfeng eChen

    2015-06-01

    Full Text Available It is well known that memory can be modulated by emotional stimuli at the time of encoding and consolidation. For example, happy faces create better identity recognition than faces with certain other expressions. However, the influence of facial expression at the time of retrieval remains unknown in the literature. To separate the potential influence of expression at retrieval from its effects at earlier stages, we had participants learn neutral faces but manipulated facial expression at the time of memory retrieval in a standard old/new recognition task. The results showed a clear effect of facial expression, where happy test faces were identified more successfully than angry test faces. This effect is unlikely due to greater image similarity between the neutral learning face and the happy test face, because image analysis showed that the happy test faces are in fact less similar to the neutral learning faces relative to the angry test faces. In the second experiment, we investigated whether this emotional effect is influenced by the expression at the time of learning. We employed angry or happy faces as learning stimuli, and angry, happy, and neutral faces as test stimuli. The results showed that the emotional effect at retrieval is robust across different encoding conditions with happy or angry expressions. These findings indicate that emotional expressions affect the retrieval process in identity recognition, and identity recognition does not rely on emotional association between learning and test faces.

  18. [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.

  19. Enamel hypoplasia in deciduous teeth of great apes: do differences in defect prevalence imply differential levels of physiological stress?

    Science.gov (United States)

    Lukacs, J R

    1999-11-01

    This paper presents new data on enamel hypoplasia in the deciduous canine teeth of great apes. The enamel defect under consideration is known as localized hypoplasia of primary canines (LHPC), and is characterized by an area of thin or missing enamel on the labial surface of deciduous canine teeth (Skinner [1986a] Am. J. Phys. Anthropol. 69:59-69). Goals of this study are: 1) to determine if significant differences in the frequency of LHPC occur among three genera of great apes, and 2) to evaluate variation in LHPC prevalence among great apes as evidence of differential physiological stress. Infant and juvenile apes with deciduous teeth were examined at the Cleveland Museum of Natural History (n = 100) and at the Smithsonian Institution, National Museum of Natural History (n = 36). Deciduous teeth were observed under oblique incandescent light, with the naked eye and with a 10x hand lens. Enamel hypoplasia was scored using Federation Dentaire International (FDI)-Defects of Dental Enamel (DDE) standards. Hypoplasias were recorded by drawing defect location and size on a dental chart, and by measuring defect size and location with Helios needlepoint dial calipers. The prevalence of LHPC is reported by genus and sex, using two approaches: 1) the frequency of affected individuals-those having one or more deciduous canine teeth scored positive for LHPC; and 2) the number of canine teeth scored positive for LHPC as a percentage of all canine teeth observed. Variation in defect size and location will be described elsewhere. Localized hypoplasia of primary canine teeth was found in 62.5% of 128 individual apes, and in 45.5% of 398 great ape deciduous canines. As in humans, LHPC is the most common form of enamel hypoplasia in deciduous teeth of great apes, while LEH is rare or absent. The distribution and pattern of expression of LHPC in great apes is similar to that described in humans: side differences are not significant, but mandibular canines exhibit the defect two to

  20. Perineural extension of facial melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Kalina, Peter [Mayo Clinic, Department of Radiology, Rochester, Minnesota (United States); Bevilacqua, Paula

    2005-05-01

    A 64-year-old man presented with a pigmented cutaneous lesion on the right side of his face along with right facial numbness. Histological examination revealed malignant melanoma. Magnetic resonance imaging (MRI) revealed perineural extension along the entire course of the maxillary division of the right trigeminal nerve. This is a rare but important manifestation of the spread of head and neck malignancy. (orig.)

  1. Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.

    Science.gov (United States)

    Webb, Emma A; O'Reilly, Michelle A; Clayden, Jonathan D; Seunarine, Kiran K; Dale, Naomi; Salt, Alison; Clark, Chris A; Dattani, Mehul T

    2013-01-01

    To assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay. To identify white matter abnormalities that may provide neural correlates for any behavioral abnormalities identified. Eleven children with isolated optic nerve hypoplasia (mean age 5.9 years) underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated short stature (mean age 6.4 years) underwent MRI, 11 of whom also completed behavioral assessments. Fractional anisotropy images were processed using tract-based spatial statistics. Partial correlation between ventral cingulum, corpus callosum and optic radiation fractional anisotropy, and child behavioral checklist scores (controlled for age at scan and sex) was performed. Children with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (pchildren with optic nerve hypoplasia. Right ventral cingulum fractional anisotropy correlated with total and externalising child behavioral checklist scores (r = -0.52, pchildren with optic nerve hypoplasia and mild to moderate or no visual impairment require behavioral assessment to determine the presence of clinically significant behavioral problems. Reduced structural integrity of the ventral cingulum correlated with behavioral scores, suggesting that these white matter abnormalities may be clinically significant. The presence of reduced fractional anisotropy in the optic radiations of children with mild to moderate or no visual impairment raises questions as to the pathogenesis of these changes which will need to be addressed by future studies.

  2. The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.

    Science.gov (United States)

    Okada, Asami; Kohmoto, Tomohiro; Naruto, Takuya; Yokota, Ichiro; Kotani, Yumiko; Shimada, Aki; Miyamoto, Yoko; Takahashi, Rizu; Goji, Aya; Masuda, Kiyoshi; Kagami, Shoji; Imoto, Issei

    2017-01-01

    Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.

  3. A Giant Gastroschisis Associated with Pulmonary Hypoplasia and Spinal Anomaly: A Case Report and a Literature Review

    Directory of Open Access Journals (Sweden)

    Surasak Puvabanditsin

    2018-01-01

    Full Text Available Gastroschisis most often occurs as an isolated anomaly and extragastrointestinal associations are rare. Most commonly, the anomalies associated with gastroschisis are cardiac and central nervous system abnormalities. Respiratory insufficiency has sometimes been reported in association with giant abdominal wall defects. Poor outcomes and prolonged ventilator support have been reported in giant gastroschisis and omphalocele, especially if associated with herniation of the majority of the liver. We report a case of a large gastroschisis that was associated with a kyphoscoliosis and pulmonary hypoplasia.

  4. Congenital dislocation of the deep digital flexor tendon associated with hypoplasia of the sustentaculum tali in a Thoroughbred colt

    International Nuclear Information System (INIS)

    Lepage, O.M.; Leveille, R.; Breton, L.; Marcoux, M.

    1995-01-01

    An 11-month-old Thoroughbred colt was presented with a hard swelling at the proximal third of the right 4th metatarsal bone. A medial dislocation of the deep digital flexor tendon (flexor digitorum profundus) was also observed on the same leg. On the plantaroproximal-plantarodistal projection of the calcaneus, there was flattening and shortening of the sustentaculum tali. The smooth bony proliferation at the proximal third of the right 4th metatarus was compatible with a chronic splint bone fracture. This report describes a medial deep digital flexor dislocation associated with hypoplasia of the sustentaculum tali

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. Analysis of Facial Expression by Taste Stimulation

    Science.gov (United States)

    Tobitani, Kensuke; Kato, Kunihito; Yamamoto, Kazuhiko

    In this study, we focused on the basic taste stimulation for the analysis of real facial expressions. We considered that the expressions caused by taste stimulation were unaffected by individuality or emotion, that is, such expressions were involuntary. We analyzed the movement of facial muscles by taste stimulation and compared real expressions with artificial expressions. From the result, we identified an obvious difference between real and artificial expressions. Thus, our method would be a new approach for facial expression recognition.

  13. 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.

  14. 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...

  15. 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...

  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. 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

  18. Distraction osteogenesis versus orthognathic surgery for the treatment of maxillary hypoplasia in cleft lip and palate patients: a systematic review.

    Science.gov (United States)

    Austin, S L; Mattick, C R; Waterhouse, P J

    2015-05-01

    To compare the effectiveness of distraction osteogenesis to orthognathic surgery for the treatment of maxillary hypoplasia in individuals with cleft lip and palate. A systematic review of prospective randomized, quasi-randomized or controlled clinical trials. MEDLINE, EMBASE, Scopus, Web of Science, CINAHL, CENTRAL, trial registers and grey literature were searched. Hand searching of five relevant journals was completed. Two reviewers independently completed inclusion assessment. Data extraction and risk of bias assessment were completed by a single reviewer and checked by a second reviewer. Five publications all reporting different outcomes of a single randomized controlled trial are included within the review. The quality of the evidence was low with a high risk of bias. Both surgical interventions produce significant soft tissue improvement. Horizontal relapse of the maxilla was statistically significantly greater following orthognathic surgery. There was no statistically significant difference in speech and velo-pharyngeal function between the interventions. Maxillary distraction initially lowered social self-esteem, but this improved with time resulting in higher satisfaction with life in the long term. The low quality of evidence included within the review means there is insufficient evidence to conclude whether there is a difference in effectiveness between maxillary distraction and osteotomy for the treatment of cleft-related maxillary hypoplasia. There is a need for further high-quality randomized controlled trials to allow conclusive recommendations to be made. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Evaluation of posterior lateral femoral condylar hypoplasia using axial MRI images in patients with complete discoid meniscus.

    Science.gov (United States)

    Xu, Zhihong; Chen, Dongyang; Shi, Dongquan; Dai, Jin; Yao, Yao; Jiang, Qing

    2016-03-01

    Hypoplasia of the lateral femoral condyle has been reported in discoid lateral meniscus patients, but associated imaging findings in the axial plane have not been characterized. In this study, we aimed to identify differences in the lateral femoral condyle between patients with discoid lateral meniscus and those with normal menisci using axial MRI images. Twenty-three patients (24 knees) with complete discoid lateral meniscus, 43 (45 knees) with incomplete discoid lateral meniscus, and 50 with normal menisci (50 knees) were enrolled and distributed into three groups. Two new angles, posterior lateral condylar angle (PLCA) and posterior medial condylar angle (PMCA), were measured on axial MRI images; the posterior condylar angle (PCA) was also measured. Differences between the three groups in the PLCA, PMCA, PCA, and PLCA/PMCA were analysed. The predictive value of PLCA and PLCA/PMCA for complete discoid lateral meniscus was assessed. In the complete discoid lateral meniscus group, PLCA and PLCA/PMCA were significantly smaller compared with the normal meniscus group and the incomplete discoid lateral meniscus group (P meniscus group compared with the incomplete discoid lateral meniscus group (P meniscus group (P meniscus. Hypoplasia of the posterior lateral femoral condyle is typically seen in patients with complete discoid lateral meniscus. PLCA and PLCA/PMCA can be measured from axial MRI images and used as excellent predictive parameters for complete discoid lateral meniscus. Diagnostic study, Level III.

  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. Application of mitomycin C after endoscopic lysis of congenital laryngeal web combined with epiglottic hypoplasia in a middle-aged man.

    Science.gov (United States)

    Roh, Jong-Lyel

    2006-04-01

    Laryngeal webs and epiglottic hypoplasias are uncommon congenital anomalies. Anterior glottic web combined with epiglottic hypoplasia was found in a middle-aged man presenting with hoarseness and dyspnea on exertion. This can be considered as a unique isolated defect of the larynx during early fetal development. The laryngeal web can be successfully treated in a single stage with endoscopic lysis and topical application of mitomycin C for prevention of anterior glottic restenosis. This case and prior reports suggest that the novel approach may be effective in the treatment of laryngeal webs.

  2. 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…

  3. Branches of the Facial Artery.

    Science.gov (United States)

    Hwang, Kun; Lee, Geun In; Park, Hye Jin

    2015-06-01

    The aim of this study is to review the name of the branches, to review the classification of the branching pattern, and to clarify a presence percentage of each branch of the facial artery, systematically. In a PubMed search, the search terms "facial," AND "artery," AND "classification OR variant OR pattern" were used. The IBM SPSS Statistics 20 system was used for statistical analysis. Among the 500 titles, 18 articles were selected and reviewed systematically. Most of the articles focused on "classification" according to the "terminal branch." Several authors classified the facial artery according to their terminal branches. Most of them, however, did not describe the definition of "terminal branch." There were confusions within the classifications. When the inferior labial artery was absent, 3 different types were used. The "alar branch" or "nasal branch" was used instead of the "lateral nasal branch." The angular branch was used to refer to several different branches. The presence as a percentage of each branch according to the branches in Gray's Anatomy (premasseteric, inferior labial, superior labial, lateral nasal, and angular) varied. No branch was used with 100% consistency. The superior labial branch was most frequently cited (95.7%, 382 arteries in 399 hemifaces). The angular branch (53.9%, 219 arteries in 406 hemifaces) and the premasseteric branch were least frequently cited (53.8%, 43 arteries in 80 hemifaces). There were significant differences among each of the 5 branches (P < 0.05) except between the angular branch and the premasseteric branch and between the superior labial branch and the inferior labial branch. The authors believe identifying the presence percentage of each branch will be helpful for surgical procedures.

  4. 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.

  5. Facial image identification using Photomodeler

    DEFF Research Database (Denmark)

    Lynnerup, Niels; Andersen, Marie; Lauritsen, Helle Petri

    2003-01-01

    consist of many images of the same person taken from different angles. We wanted to see if it was possible to combine such a suite of images in useful 3-D renderings of facial proportions.Fifteen male adults were photographed from four different angles. Based on these photographs, a 3-D wireframe model......We present the results of a preliminary study on the use of 3-D software (Photomodeler) for identification purposes. Perpetrators may be photographed or filmed by surveillance systems. The police may wish to have these images compared to photographs of suspects. The surveillance imagery will often...

  6. Facial Affect Displays during Tutoring Sessions

    NARCIS (Netherlands)

    Ghijsen, M.; Heylen, Dirk K.J.; Nijholt, Antinus; op den Akker, Hendrikus J.A.

    2005-01-01

    An emotionally intelligent tutoring system should be able to provide feedback to students, taking into account relevant aspects of the mental state of the student. Facial expressions, put in context, might provide some cues with respect to this state. We discuss the analysis of the facial expression

  7. Case Report: Magnetically retained silicone facial prosthesis ...

    African Journals Online (AJOL)

    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. Key words: Magnet ...

  8. Facial Feedback Mechanisms in Autistic Spectrum Disorders

    Science.gov (United States)

    Stel, Marielle; van den Heuvel, Claudia; Smeets, Raymond C.

    2008-01-01

    Facial feedback mechanisms of adolescents with Autistic Spectrum Disorders (ASD) were investigated utilizing three studies. Facial expressions, which became activated via automatic (Studies 1 and 2) or intentional (Study 2) mimicry, or via holding a pen between the teeth (Study 3), influenced corresponding emotions for controls, while individuals…

  9. 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 ...

  10. 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.

  11. 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

  12. 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)

  13. 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.

  14. 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.

  15. Preoperative embolization of facial angiomas

    International Nuclear Information System (INIS)

    Causmano, F.; Bruschi, G.; De Donatis, M.; Piazza, P.; Bassi, P.

    1988-01-01

    Preoperative embolization was performed on 27 patients with facial angiomas supplied by the external carotid branches. Sixteen were males and 11 females; 13 of these angiomas were high-flow arterio-venous (A-V), 14 were low-flow capillary malformations. Fourteen patients underwent surgical removal after preoperative embolization; in this group embolization was carried out with Spongel in 3 cases and with Lyodura in 11 cases. In 12 of these patients the last angiographic examination was performed 3-6 years later: angiography evidenced no recurrence in 8 cases (67%), while in 3 cases (25%) there was capillary residual angioma of negligible size. Treatment was unsuccessful in one patient only, due to the large recurrent A-V angioma. Thirteen patients underwent embolization only, which was carried out with Lyodura in 10 cases, and with Ivalon in 3 cases. On 12 of these patients the last angiographic study was performed 2-14 months later: there was recurrent A-V angioma in 5 patients (42%), who underwent a subsequent embolization; angiography evidenced no recurrence in the other 7 patients (58%). In both series, the best results were obtained in the patients with low-flow capillary angiomas. Embolization and subsequent surgical removal are the treatment of choice for facial angiomas; embolization alone is useful in the management of surgically inacessible vascular malformations, and it can be the only treatment in patients with small low-flow angiomas when distal occlusion of the feeding vessel with Lyodura or Ivalon particles is performed

  16. 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

  17. 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.

  18. [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.

  19. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and

  20. 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.

  1. Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection.

    Science.gov (United States)

    Rusbridge, Clare; Knowler, Penny; Rouleau, Guy A; Minassian, Berge A; Rothuizen, Jan

    2005-01-01

    Inherited diseases commonly emerge within pedigree dog populations, often due to use of repeatedly bred carrier sire(s) within a small gene pool. Accurate family records are usually available making linkage analysis possible. However, there are many factors that are intrinsically difficult about collecting DNA and collating pedigree information from a large canine population. The keys to a successful DNA collection program include (1) the need to establish and maintain support from the pedigree breed clubs and pet owners; (2) committed individual(s) who can devote the considerable amount of time and energy to coordinating sample collection and communicating with breeders and clubs; and (3) providing means by which genotypic and phenotypic information can be easily collected and stored. In this article we described the clinical characteristics of inherited occipital hypoplasia/syringomyelia (Chiari type I malformation) in the cavalier King Charles spaniel and our experiences in establishing a pedigree and DNA database to study the disease.

  2. 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.

  3. 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.

  4. Magnetic resonance imaging of facial nerve schwannoma.

    Science.gov (United States)

    Thompson, Andrew L; Aviv, Richard I; Chen, Joseph M; Nedzelski, Julian M; Yuen, Heng-Wai; Fox, Allan J; Bharatha, Aditya; Bartlett, Eric S; Symons, Sean P

    2009-12-01

    This study characterizes the magnetic resonance (MR) appearances of facial nerve schwannoma (FNS). We hypothesize that the extent of FNS demonstrated on MR will be greater compared to prior computed tomography studies, that geniculate involvement will be most common, and that cerebellar pontine angle (CPA) and internal auditory canal (IAC) involvement will more frequently result in sensorineural hearing loss (SNHL). Retrospective study. Clinical, pathologic, and enhanced MR imaging records of 30 patients with FNS were analyzed. Morphologic characteristics and extent of segmental facial nerve involvement were documented. Median age at initial imaging was 51 years (range, 28-76 years). Pathologic confirmation was obtained in 14 patients (47%), and the diagnosis reached in the remainder by identification of a mass, thickening, and enhancement along the course of the facial nerve. All 30 lesions involved two or more contiguous segments of the facial nerve, with 28 (93%) involving three or more segments. The median segments involved per lesion was 4, mean of 3.83. Geniculate involvement was most common, in 29 patients (97%). CPA (P = .001) and IAC (P = .02) involvement was significantly related to SNHL. Seventeen patients (57%) presented with facial nerve dysfunction, manifesting in 12 patients as facial nerve weakness or paralysis, and/or in eight with involuntary movements of the facial musculature. This study highlights the morphologic heterogeneity and typical multisegment involvement of FNS. Enhanced MR is the imaging modality of choice for FNS. The neuroradiologist must accurately diagnose and characterize this lesion, and thus facilitate optimal preoperative planning and counseling.

  5. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.

    LENUS (Irish Health Repository)

    Miller, Stanley D W

    2012-02-01

    Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate\\/severe OSAS with an AHI of 33 events\\/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events\\/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events\\/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.

  6. A novel osteogenic distraction device for the transversal correction of temporozygomatic hypoplasia.

    Science.gov (United States)

    Pagnoni, Mario; Fadda, Maria Teresa; Cascone, Piero; Iannetti, Giorgio

    2014-07-01

    Hemifacial microsomia (HFM) is a congenital disorder characterized by craniofacial malformation of one or both sides of the lower face. Since these anomalies are associated with soft-tissue deficiencies, corrective surgery is often difficult. Bone grafts have typically been used for augmentation, but distraction osteogenesis now offers an alternative for many craniofacial deficiencies, but there are few if any appropriate distraction devices and surgical procedures for the augmentation of craniofacial transversal dimensions. The aim of this study was to evaluate a technique for guided augmentation of craniofacial transversal dimensions through distraction osteogenesis. We tested the efficacy of a prototype distractor, developed in collaboration with Medartis, using cadavers and demonstrated its application for the correction of the transverse dimension of the temporozygomatic region in a patient with Goldenhar syndrome. CT scans showed a 4-mm transverse augmentation of the bony surface after 9 days and a 10-mm increase after 30 days. Upon removal of the distractor (60 days after the first surgery) CT indicated good bony fusion and a stable result in the transverse plane. Six months after removal of the distractor, 3D computed tomography confirmed the success of the transverse augmentation, as it appeared to be stable and reliable. Distraction osteogenesis, using our device, can be used to correct the transverse dimension of the temporozygomatic region in HFM patients. It should also be considered for the correction of residual postsurgical skeletal deficiency due to surgical relapse or deficient growth, and unsatisfactory skeletal contour. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  7. A dynamic appearance descriptor approach to facial actions temporal modeling

    NARCIS (Netherlands)

    Jiang, Bihan; Valstar, Michel; Martinez, Brais; Pantic, Maja

    Both the configuration and the dynamics of facial expressions are crucial for the interpretation of human facial behavior. Yet to date, the vast majority of reported efforts in the field either do not take the dynamics of facial expressions into account, or focus only on prototypic facial

  8. Case report of a patient with peripheral facial nerve palsy

    OpenAIRE

    Rysová, Jana

    2013-01-01

    Title of bachelor's thesis: Case report of a patient with peripheral facial nerve palsy Summary: Teoretical part of bachelor's thesis contains theoretical foundation of peripheral facial nerve palsy. Practical part of bachelor's thesis contains physiotherapeutic case report of patient with peripheral facial nerve palsy. Key words: peripheral facial nerve palsy, casuistry, rehabilitation

  9. Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.

    Directory of Open Access Journals (Sweden)

    Emma A Webb

    Full Text Available OBJECTIVES: To assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay. To identify white matter abnormalities that may provide neural correlates for any behavioral abnormalities identified. PATIENTS AND METHODS: Eleven children with isolated optic nerve hypoplasia (mean age 5.9 years underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated short stature (mean age 6.4 years underwent MRI, 11 of whom also completed behavioral assessments. Fractional anisotropy images were processed using tract-based spatial statistics. Partial correlation between ventral cingulum, corpus callosum and optic radiation fractional anisotropy, and child behavioral checklist scores (controlled for age at scan and sex was performed. RESULTS: Children with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (p<0.05 than controls (4 had scores in the clinically significant range. Ventral cingulum, corpus callosum and optic radiation fractional anisotropy were significantly reduced in children with optic nerve hypoplasia. Right ventral cingulum fractional anisotropy correlated with total and externalising child behavioral checklist scores (r = -0.52, p<0.02, r = -0.46, p<0.049 respectively. There were no significant correlations between left ventral cingulum, corpus callosum or optic radiation fractional anisotropy and behavioral scores. CONCLUSIONS: Our findings suggest that children with optic nerve hypoplasia and mild to moderate or no visual impairment require behavioral assessment to determine the presence of clinically significant behavioral problems. Reduced structural integrity of the ventral cingulum correlated with behavioral scores, suggesting that these white matter abnormalities may be clinically significant. The presence of reduced fractional anisotropy in the optic

  10. 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...

  11. 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 ...

  12. Computed tomography of the facial canal

    International Nuclear Information System (INIS)

    Kiuchi, Sousuke

    1983-01-01

    The radiological details of the facial canal was investigated by computed tomography. In the first part of this study, dry skulls were used to delineate the full course of the facial canal by computed tomography. In the second part of this study, the patients with chronic otitis media and secondary cholesteatoma were evaluated. The labyrinthine and tympanic parts of the canal were well demonstrated with the axial scanning, and the mastoid part with the coronal scanning. Moreover, computed tomography showed excellent delineation of the middle ear contents. In patients with secondary cholesteatoma, the destructions of the intratympanic course of the bony facial canal were also assessed preoperatively. (author)

  13. 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...

  14. 3D Facial Pattern Analysis for Autism

    Science.gov (United States)

    2010-07-01

    et al. (2001) proposed a two-level Garbor wavelet network (GWN) to detect eight facial features. In Bhuiyan et al. (2003) six facial features are...Toyama, K., Krüger, V., 2001. Hierarchical Wavelet Networks for Facial Feature Localization. ICCV’01 Workshop on Recognition, Analysis and... pathological  (red) and normal structure (blue) (b)  signed distance map (negative distance indicates the  pathological  shape is inside) (c) raw

  15. Enlarged facial pores: an update on treatments.

    Science.gov (United States)

    Dong, Joanna; Lanoue, Julien; Goldenberg, Gary

    2016-07-01

    Enlarged facial pores remain a common dermatologic and cosmetic concern from acne and rosacea, among other conditions, that is difficult to treat due to the multifactorial nature of their pathogenesis and negative impact on patients' quality of life. Enlarged facial pores are primarily treated through addressing associative factors, such as increased sebum production and cutaneous aging. We review the current treatment modalities for enlarged or dense facial pores, including topical retinoids, chemical peels, oral antiandrogens, and lasers and devices, with a focus on newer therapies.

  16. Fusing Facial Features for Face Recognition

    Directory of Open Access Journals (Sweden)

    Jamal Ahmad Dargham

    2012-06-01

    Full Text Available Face recognition is an important biometric method because of its potential applications in many fields, such as access control, surveillance, and human-computer interaction. In this paper, a face recognition system that fuses the outputs of three face recognition systems based on Gabor jets is presented. The first system uses the magnitude, the second uses the phase, and the third uses the phase-weighted magnitude of the jets. The jets are generated from facial landmarks selected using three selection methods. It was found out that fusing the facial features gives better recognition rate than either facial feature used individually regardless of the landmark selection method.

  17. Peripheral facial nerve dysfunction: CT evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Disbro, M.A.; Harnsberger, H.R.; Osborn, A.G.

    1985-06-01

    Peripheral facial nerve dysfunction may have a clinically apparent or occult cause. The authors reviewed the clinical and radiographic records of 36 patients with peripheral facial nerve dysfunction to obtain information on the location of the suspected lesion and the number, sequence, and type of radiographic evaluations performed. Inadequate clinical evaluations before computed tomography (CT) was done and unnecessary CT examinations were also noted. They have suggested a practical clinical and radiographic scheme to evaluate progressive peripheral facial dysfunction with no apparent cause. If this scheme is applied, unnecessary radiologic tests and delays in diagnosis and treatment may be avoided.

  18. 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.

  19. 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…

  20. A Deep Learning Perspective on the Origin of Facial Expressions

    OpenAIRE

    Breuer, Ran; Kimmel, Ron

    2017-01-01

    Facial expressions play a significant role in human communication and behavior. Psychologists have long studied the relationship between facial expressions and emotions. Paul Ekman et al., devised the Facial Action Coding System (FACS) to taxonomize human facial expressions and model their behavior. The ability to recognize facial expressions automatically, enables novel applications in fields like human-computer interaction, social gaming, and psychological research. There has been a tremend...

  1. 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

  2. Fibrose congênita de reto inferior atípica com hipotonia muscular generalizada: relato de um caso Atipical inferior rectus congenital fibrosis with generalizated muscular hypotonia: case report

    Directory of Open Access Journals (Sweden)

    Ezon Vinicius Alves Pinto Ferraz

    1999-10-01

    Full Text Available O caso descrito apresentava uma hipotropia pouco severa com acuidade visual normal e binocularidade em infra-versão; além de uma hipotonia muscular generalizada, ao contrário da severa hipotropia e ambliopia encontrada nessa afecção. O procedimento cirúrgico levou estes fatos em consideração, tendo-se optado por um retrocesso pequeno do reto inferior para que se corrigisse o torcicolo sem interferir na posição de leitura. Os resultados pós-operatórios foram satisfatórios.A case report of an atipical inferior rectus congenital fibrosis associated with a generalized muscular hypotonia is presented. It shows mild hipotropia with a normal visual acuity and binocularity in infraversion position contrasting with the severe hipotropia and ambliopy found. The surgical procedure took these facts into consideration, so we performed a small retrocess of the muscle with the objective to correct the head position without changes in the reading position. The postoperative results were satisfactory.

  3. Greater perceptual sensitivity to happy facial expression.

    Science.gov (United States)

    Maher, Stephen; Ekstrom, Tor; Chen, Yue

    2014-01-01

    Perception of subtle facial expressions is essential for social functioning; yet it is unclear if human perceptual sensitivities differ in detecting varying types of facial emotions. Evidence diverges as to whether salient negative versus positive emotions (such as sadness versus happiness) are preferentially processed. Here, we measured perceptual thresholds for the detection of four types of emotion in faces--happiness, fear, anger, and sadness--using psychophysical methods. We also evaluated the association of the perceptual performances with facial morphological changes between neutral and respective emotion types. Human observers were highly sensitive to happiness compared with the other emotional expressions. Further, this heightened perceptual sensitivity to happy expressions can be attributed largely to the emotion-induced morphological change of a particular facial feature (end-lip raise).

  4. Facial soft tissue changes after orthodontic treatment

    African Journals Online (AJOL)

    2013-09-09

    Sep 9, 2013 ... Objectives: To successfully meet expectations on facial esthetics, it is important to ... by questionnaire and identification cards that were given ..... Zekic E. The use of parental data in evaluation of the craniofacial structures.

  5. 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.

  6. Unsupervised learning of facial expression components

    OpenAIRE

    Egede, Joy Onyekachukwu

    2013-01-01

    The face is one of the most important means of non-verbal communication. A lot of information can be gotten about the emotional state of a person just by merely observing their facial expression. This is relatively easy in face to face communication but not so in human computer interaction. Supervised learning has been widely used by researchers to train machines to recognise facial expressions just like humans. However, supervised learning has significant limitations one of which is the fact...

  7. Temporomandibular disorders, facial pain, and headaches.

    Science.gov (United States)

    Bender, Steven D

    2012-05-01

    Headaches and facial pain are common in the general population. In many cases, facial pain can be resultant from temporomandibular joint disorders. Studies have identified an association between headaches and temporomandibular joint disorders suggesting the possibility of shared pathophysiologic mechanisms of these 2 maladies. The aim of this paper is to elucidate potential commonalities of these disorders and to provide a brief overview of an examination protocol that may benefit the headache clinician in daily practice. © 2012 American Headache Society.

  8. Dynamic Facial Expression of Emotion Made Easy

    OpenAIRE

    Broekens, Joost; Qu, Chao; Brinkman, Willem-Paul

    2012-01-01

    Facial emotion expression for virtual characters is used in a wide variety of areas. Often, the primary reason to use emotion expression is not to study emotion expression generation per se, but to use emotion expression in an application or research project. What is then needed is an easy to use and flexible, but also validated mechanism to do so. In this report we present such a mechanism. It enables developers to build virtual characters with dynamic affective facial expressions. The mecha...

  9. Paralisia facial periférica

    Directory of Open Access Journals (Sweden)

    José Jarjura Jorge Jr.

    2007-05-01

    Full Text Available Os autores fazem uma revisão sobre o anatomo fisiologia, os diagnósticos clinico e eletrofisiológico da Paralisia Facial Periférica assim como relacionam as afecções envolvidas no processo, discutindo seu tratamento clinico e cirúrgico. Em seguida relatam 5 casos de diversas etiologias tratados no ambulatório de Paralisia Facial da Disciplina de Otorrinolaringologia da FCMB da PUC-SP.

  10. 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...

  11. Pediatric facial fractures: evolving patterns of treatment.

    Science.gov (United States)

    Posnick, J C; Wells, M; Pron, G E

    1993-08-01

    This study reviews the treatment of facial trauma between October 1986 and December 1990 at a major pediatric referral center. The mechanism of injury, location and pattern of facial fractures, pattern of facial injury, soft tissue injuries, and any associated injuries to other organ systems were recorded, and fracture management and perioperative complications reviewed. The study population consisted of 137 patients who sustained 318 facial fractures. Eighty-one patients (171 fractures) were seen in the acute stage, and 56 patients (147 fractures) were seen for reconstruction of a secondary deformity. Injuries in boys were more prevalent than in girls (63% versus 37%), and the 6- to 12-year cohort made up the largest group (42%). Most fractures resulted from traffic-related accidents (50%), falls (23%), or sports-related injuries (15%). Mandibular (34%) and orbital fractures (23%) predominated; fewer midfacial fractures (7%) were sustained than would be expected in a similar adult population. Three quarters of the patients with acute fractures required operative intervention. Closed reduction techniques with maxillomandibular fixation were frequently chosen for mandibular condyle fractures and open reduction techniques (35%) for other regions of the facial skeleton. When open reduction was indicated, plate-and-screw fixation was the preferred method of stabilization (65%). The long-term effects of the injuries and the treatment given on facial growth remain undetermined. Perioperative complication rates directly related to the surgery were low.

  12. 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.

  13. Automated facial acne assessment from smartphone images

    Science.gov (United States)

    Amini, Mohammad; Vasefi, Fartash; Valdebran, Manuel; Huang, Kevin; Zhang, Haomiao; Kemp, William; MacKinnon, Nicholas

    2018-02-01

    A smartphone mobile medical application is presented, that provides analysis of the health of skin on the face using a smartphone image and cloud-based image processing techniques. The mobile application employs the use of the camera to capture a front face image of a subject, after which the captured image is spatially calibrated based on fiducial points such as position of the iris of the eye. A facial recognition algorithm is used to identify features of the human face image, to normalize the image, and to define facial regions of interest (ROI) for acne assessment. We identify acne lesions and classify them into two categories: those that are papules and those that are pustules. Automated facial acne assessment was validated by performing tests on images of 60 digital human models and 10 real human face images. The application was able to identify 92% of acne lesions within five facial ROIs. The classification accuracy for separating papules from pustules was 98%. Combined with in-app documentation of treatment, lifestyle factors, and automated facial acne assessment, the app can be used in both cosmetic and clinical dermatology. It allows users to quantitatively self-measure acne severity and treatment efficacy on an ongoing basis to help them manage their chronic facial acne.

  14. 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.

  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. 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®.

  17. 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

  18. Facial appearance affects science communication.

    Science.gov (United States)

    Gheorghiu, Ana I; Callan, Mitchell J; Skylark, William J

    2017-06-06

    First impressions based on facial appearance predict many important social outcomes. We investigated whether such impressions also influence the communication of scientific findings to lay audiences, a process that shapes public beliefs, opinion, and policy. First, we investigated the traits that engender interest in a scientist's work, and those that create the impression of a "good scientist" who does high-quality research. Apparent competence and morality were positively related to both interest and quality judgments, whereas attractiveness boosted interest but decreased perceived quality. Next, we had members of the public choose real science news stories to read or watch and found that people were more likely to choose items that were paired with "interesting-looking" scientists, especially when selecting video-based communications. Finally, we had people read real science news items and found that the research was judged to be of higher quality when paired with researchers who look like "good scientists." Our findings offer insights into the social psychology of science, and indicate a source of bias in the dissemination of scientific findings to broader society.

  19. 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.

  20. [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.

  1. 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

  2. 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 ...

  3. 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.

  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. 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.

  6. 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.

  7. 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

  8. 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

  9. A case of hypoplasia of left lung with very rare associations with congenital absence of left pulmonary artery and right-sided aortic arch

    Directory of Open Access Journals (Sweden)

    Trilok Chand

    2017-01-01

    Full Text Available The absence of one of the pulmonary artery with associated hypoplasia of lung and great vessel abnormality is a rare finding. The incidence of this rare congenital abnormality is around 1 in 200,000 live birth. The absence of the left side pulmonary artery is again uncommon, and associated cardiac malformations are usually tetralogy of fallot or septal defects rather than an aortic arch defect. Our case is a unique case in It’s associated congenital anomalies. He was presented with recurrent pneumothorax and hemoptysis, and on thorough workup, he was diagnosed to have an absence of left pulmonary artery with hypoplasia of the left lung and associated right-sided aortic arch. The patient’s family has declined the surgical option, and he was managed conservatively and kept in close follow-up.

  10. Nasomaxillary hypoplasia with a congenitally missing tooth treated with LeFort II osteotomy, autotransplantation, and nickel-titanium alloy wire.

    Science.gov (United States)

    Ishida, Takayoshi; Ikemoto, Shigehiro; Ono, Takashi

    2015-09-01

    In some skeletal Class III adult patients with nasomaxillary hypoplasia, the LeFort I osteotomy provides insufficient correction. This case report describes a 20-year-old woman with a combination of nasomaxillary hypoplasia and a protrusive mandible with a congenitally missing mandibular second premolar. We performed a LeFort II osteotomy for maxillary advancement. Autotransplantation of a tooth was also performed; the donor tooth was used to replace the missing permanent tooth. To increase the chance of success, we applied light continuous force with an improved superelastic nickel-titanium alloy wire technique before extraction and after transplantation. The patient's profile and malocclusion were corrected, and the autotransplanted tooth functioned well. The postero-occlusal relationships were improved, and ideal overbite and overjet relationships were achieved. The methods used in this case represent a remarkable treatment. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  11. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Sasigarn A. Bowden

    2009-01-01

    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  12. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Klingele KevinE

    2009-11-01

    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  13. Three dimensional endo-cardiovascular volume-rendered cine computed tomography of isolated left ventricular apical hypoplasia; A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Sun Hwa; Kim, Yang Min; Lee, Hyun Jong [Sejong General Hospital, Bucheon (Korea, Republic of)

    2016-02-15

    We report multidetector computed tomography (MDCT) and cardiac magnetic resonance (CMR) findings of a 34-year-old female with isolated left ventricular apical hypoplasia. The MDCT and CMR scans displayed a spherical left ventricle (LV) with extensive fatty infiltration within the myocardium at the apex, interventricular septum and inferior wall, anteroapical origin of the papillary muscle, right ventricle wrapping around the deficient LV apex, and impaired systolic function. MDCT visualized morphologic and also functional findings of this unique cardiomyopathy.

  14. Improved imaging of cochlear nerve hypoplasia using a 3-Tesla variable flip-angle turbo spin-echo sequence and a 7-cm surface coil.

    Science.gov (United States)

    Giesemann, Anja M; Raab, Peter; Lyutenski, Stefan; Dettmer, Sabine; Bültmann, Eva; Frömke, Cornelia; Lenarz, Thomas; Lanfermann, Heinrich; Goetz, Friedrich

    2014-03-01

    Magnetic resonance imaging of the temporal bone has an important role in decision making with regard to cochlea implantation, especially in children with cochlear nerve deficiency. The purpose of this study was to evaluate the usefulness of the combination of an advanced high-resolution T2-weighted sequence with a surface coil in a 3-Tesla magnetic resonance imaging scanner in cases of suspected cochlear nerve aplasia. Prospective study. Seven patients with cochlear nerve hypoplasia or aplasia were prospectively examined using a high-resolution three-dimensional variable flip-angle turbo spin-echo sequence using a surface coil, and the images were compared with the same sequence in standard resolution using a standard head coil. Three neuroradiologists evaluated the magnetic resonance images independently, rating the visibility of the nerves in diagnosing hypoplasia or aplasia. Eight ears in seven patients with hypoplasia or aplasia of the cochlear nerve were examined. The average age was 2.7 years (range, 9 months-5 years). Seven ears had accompanying malformations. The inter-rater reliability in diagnosing hypoplasia or aplasia was greater using the high-resolution three-dimensional variable flip-angle turbo spin-echo sequence (fixed-marginal kappa: 0.64) than with the same sequence in lower resolution (fixed-marginal kappa: 0.06). Examining cases of suspected cochlear nerve aplasia using the high-resolution three-dimensional variable flip-angle turbo spin-echo sequence in combination with a surface coil shows significant improvement over standard methods. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  15. Hypoplasia of the basi-occipital bone and persistance of the spheno-occipital synchondrosis in a patient with transitory supplementary fissure of the basi-occipital

    International Nuclear Information System (INIS)

    Wackenheim, A.

    1985-01-01

    The author had the opportunity to observe the progressive development of a special form of basilar impression characterized by transitory supplementary fissure of the basi-occipital bone, persistance of the spheno-occipital synchondrosis and hypoplasia of the basi-occipital. He proposes to dissociate the general concept of basilar impression and to consider anatomo-clinical entities such as the example described in this paper. (orig.)

  16. Dental enamel Hypoplasia. Investigations on the Bones Exhumed from the Medieval Necropole of Lozova (Republic of Moldova, XIVth–XVth Centuries

    Directory of Open Access Journals (Sweden)

    Robert Daniel Simalcsik

    2014-10-01

    Full Text Available Dental hypoplasia is a developmental anomaly based on perturbations of amelogenesis. Hypoplasia defects are part of the unspecific quantitative indicators for the state of health and / or nutritional state during the formation of the dental buds. It is a response of the human organism to physiological stress. The incidence of this dysplasia in a past population can indicate its biological frailty in its attempt to adapt to the environmental changes. The osteological material was excavated in the interval 2010 – 2011 by archaeologists from the Archaeology Centre in Chisinau, from the Medieval cemetery of Lozova (Straseni County, Republic of Moldova, dated for the XIVth and XVth centuries. Fifty one skeletons from 50 inhumation graves have been excavated and analyzed so far. Only 40 individuals had most of their teeth present. The enamel hypoplasia is of linear transversal type, located on the labial surface of the dental crowns, in the median third. The canine is the most affected tooth, followed by the incisors. The incidence of dental enamel hypoplasia at population level (based on the data collected and on the number of graves excavates so far, which does not illustrate the entire population of the cemetery is 7.5%. The incidence of dental caries is 23.53%, of cribra orbitalia – 11.75%, and of cribra cranii externa – 1.96%. The results obtained for a relatively small rural community illustrate a good adaptation to the stressing environmental factors. The possible malnutrition and illness episodes suffered during early childhood were recovered along the growth and development processes.

  17. 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

  18. 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

  19. Should physicians have facial piercings?

    Science.gov (United States)

    Newman, Alison W; Wright, Seth W; Wrenn, Keith D; Bernard, Aline

    2005-03-01

    The objective of this study was to assess attitudes of patrons and medical school faculty about physicians with nontraditional facial piercings. We also examined whether a piercing affected the perceived competency and trustworthiness of physicians. Survey. Teaching hospital in the southeastern United States. Emergency department patrons and medical school faculty physicians. First, patrons were shown photographs of models with a nontraditional piercing and asked about the appropriateness for a physician or medical student. In the second phase, patrons blinded to the purpose of the study were shown identical photographs of physician models with or without piercings and asked about competency and trustworthiness. The third phase was an assessment of attitudes of faculty regarding piercings. Nose and lip piercings were felt to be appropriate for a physician by 24% and 22% of patrons, respectively. Perceived competency and trustworthiness of models with these types of piercings were also negatively affected. An earring in a male was felt to be appropriate by 35% of patrons, but an earring on male models did not negatively affect perceived competency or trustworthiness. Nose and eyebrow piercings were felt to be appropriate by only 7% and 5% of faculty physicians and working with a physician or student with a nose or eyebrow piercing would bother 58% and 59% of faculty, respectively. An ear piercing in a male was felt to be appropriate by 20% of faculty, and 25% stated it would bother them to work with a male physician or student with an ear piercing. Many patrons and physicians feel that some types of nontraditional piercings are inappropriate attire for physicians, and some piercings negatively affect perceived competency and trustworthiness. Health care providers should understand that attire may affect a patient's opinion about their abilities and possibly erode confidence in them as a clinician.

  20. Fusiform Correlates of Facial Memory in Autism

    Directory of Open Access Journals (Sweden)

    Nicholas Lange

    2013-07-01

    Full Text Available Prior studies have shown that performance on standardized measures of memory in children with autism spectrum disorder (ASD is substantially reduced in comparison to matched typically developing controls (TDC. Given reported deficits in face processing in autism, the current study compared performance on an immediate and delayed facial memory task for individuals with ASD and TDC. In addition, we examined volumetric differences in classic facial memory regions of interest (ROI between the two groups, including the fusiform, amygdala, and hippocampus. We then explored the relationship between ROI volume and facial memory performance. We found larger volumes in the autism group in the left amygdala and left hippocampus compared to TDC. In contrast, TDC had larger left fusiform gyrus volumes when compared with ASD. Interestingly, we also found significant negative correlations between delayed facial memory performance and volume of the left and right fusiform and the left hippocampus for the ASD group but not for TDC. The possibility of larger fusiform volume as a marker of abnormal connectivity and decreased facial memory is discussed.

  1. Temporal distribution of alcohol related facial fractures.

    Science.gov (United States)

    Lee, Kai H; Qiu, Michael; Sun, Jiandong

    2017-11-01

    This study aimed to address 2 important aspects of temporal pattern in alcohol-related facial fractures: (1) comparison of temporal pattern of alcohol-related facial fracture (alcohol group) presentation with non-alcohol-related fracture (non-alcohol group) presentation; (2) temporal pattern of patient demographic characteristics, injury characteristics, and surgical management in the alcohol group presentation. This study retrospectively examined the Victorian admitted episodes data set (VAED) for the years 2010 to 2013. VAED is a standardized set of data collected during all hospital presentations in Victoria. The study found higher incidence of alcohol-related facial fracture presentations during weekends and during the summer and spring months compared with non-alcohol-related fractures (statistically significant). Alcohol-related facial fractures are more likely to involve male patients in the 20- to 29-year age group, occur as a result of interpersonal violence, and require shorter hospital stays during weekend admissions (statistically significant). No statistically significant relationship has been observed in seasonal variation across all variables. This study found distinct characteristics in temporal distribution of alcohol-related facial fractures. These characteristics are, in particular, significant in weekend trauma admissions. Such information is important in workforce planning, resource distribution, and implementation of injury prevention programs. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Unsupervised learning of facial emotion decoding skills

    Directory of Open Access Journals (Sweden)

    Jan Oliver Huelle

    2014-02-01

    Full Text Available 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 practise 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 practise effects often observed in cognitive tasks.

  3. 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.

  4. Clinical outcomes of facial transplantation: a review.

    Science.gov (United States)

    Shanmugarajah, Kumaran; Hettiaratchy, Shehan; Clarke, Alex; Butler, Peter E M

    2011-01-01

    A total of 18 composite tissue allotransplants of the face have currently been reported. Prior to the start of the face transplant programme, there had been intense debate over the risks and benefits of performing this experimental surgery. This review examines the surgical, functional and aesthetic, immunological and psychological outcomes of facial transplantation thus far, based on the predicted risks outlined in early publications from teams around the world. The initial experience has demonstrated that facial transplantation is surgically feasible. Functional and aesthetic outcomes have been very encouraging with good motor and sensory recovery and improvements to important facial functions observed. Episodes of acute rejection have been common, as predicted, but easily controlled with increases in systemic immunosuppression. Psychological improvements have been remarkable and have resulted in the reintegration of patients into the outside world, social networks and even the workplace. Complications of immunosuppression and patient mortality have been observed in the initial series. These have highlighted rigorous patient selection as the key predictor of success. The overall early outcomes of the face transplant programme have been generally more positive than many predicted. This initial success is testament to the robust approach of teams. Dissemination of outcomes and ongoing refinement of the process may allow facial transplantation to eventually become a first-line reconstructive option for those with extensive facial disfigurements. Copyright © 2011 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

  5. 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.

  6. 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).

  7. Stability of Facial Affective Expressions in Schizophrenia

    Directory of Open Access Journals (Sweden)

    H. Fatouros-Bergman

    2012-01-01

    Full Text Available Thirty-two videorecorded interviews were conducted by two interviewers with eight patients diagnosed with schizophrenia. Each patient was interviewed four times: three weekly interviews by the first interviewer and one additional interview by the second interviewer. 64 selected sequences where the patients were speaking about psychotic experiences were scored for facial affective behaviour with Emotion Facial Action Coding System (EMFACS. In accordance with previous research, the results show that patients diagnosed with schizophrenia express negative facial affectivity. Facial affective behaviour seems not to be dependent on temporality, since within-subjects ANOVA revealed no substantial changes in the amount of affects displayed across the weekly interview occasions. Whereas previous findings found contempt to be the most frequent affect in patients, in the present material disgust was as common, but depended on the interviewer. The results suggest that facial affectivity in these patients is primarily dominated by the negative emotions of disgust and, to a lesser extent, contempt and implies that this seems to be a fairly stable feature.

  8. 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.

  9. Skeletal manifestations of stress in child victims of the Great Irish Famine (1845-1852): prevalence of enamel hypoplasia, Harris lines, and growth retardation.

    Science.gov (United States)

    Geber, Jonny

    2014-09-01

    The Great Irish Famine of 1845-1852 is among the worst food crises in human history. While numerous aspects of this period have been studied by generations of scholars, relatively little attention has so far been given to the physiological impact it is likely to have had on the people who suffered and succumbed to it. This study examines the prevalence of enamel hypoplasia, Harris lines, and growth retardation in the nonadult proportion of a skeletal population comprising victims of the Famine who died in the workhouse in the city of Kilkenny between 1847 and 1851. The frequency of enamel hypoplasia in these children does not appear to have increased as a consequence of famine, although this fact is likely to be a reflection of the osteological paradox. Harris lines and growth retardation; however, were very prevalent, and the manifestation and age-specific distribution of these may be indicators of the Famine experience. While there was no clear correlation in the occurrence of the assessed markers, the presence of cribra orbitalia displayed a significant relationship to enamel hypoplasia in 1- to 5-year-old children. While starvation, metabolic disorders and infectious diseases are likely to have greatly contributed to the manifestation of the markers, the psychosocial stress relating to institutionalization in the workhouse should not be underestimated as a substantial causative factor for skeletal stress in this population. Copyright © 2014 Wiley Periodicals, Inc.

  10. [Exploration for micro-osteotomy assisted orthodontic treatment of skeletal Class III malocclusions with alveolar hypoplasia in the lower anterior region].

    Science.gov (United States)

    Wang, Bo; Shen, Guo-fang; Fang, Bing; Sun, Liang-yan; Wu, Yong; Jiang, Ling-yong; Zhu, Min

    2012-10-01

    To investigate the changes of periodontal conditions after micro-osteotomy assisted lower incisor decompensation for skeletal Class III malocclusions with alveolar hypoplasia in the lower anterior region. The sample consisted of 22 cases diagnosed as skeletal Class III malocclusions with alveolar hypoplasia in the lower anterior region, selected from consecutive patients of Department of Oral & Cranio-maxillofacial Science of Shanghai Ninth People's Hospital during 2009-2012. The samples were divided into 2 groups; G1 comprised 10 patients who accepted micro-osteotomy assisted lower incisor decompensation; G2 comprised 12 patients who chose traditional pre-surgical decomposition. The changes of periodontal conditions of both groups were evaluated with the help of cone-beam CT(CBCT). Data was processed using SAS8.02 software package. For subjects in G1, during the micro-osteotomy assisted pre-surgical orthodontics, no significant difference was found in the amount of root resorption of lower incisors.But labial and lingual vertical alveolar bone loss were 2.60 mm and 2.22 mm; alveolar bone thickness increased by 3.05 mm on the labial side and decreased by 0.88 mm on the lingual side (Ppre-surgical orthodontics was much safer than traditional orthodontics for skeletal Class III malocclusions with alveolar hypoplasia in the lower anterior region.

  11. Maxillary distraction osteogenesis in cleft lip and palate cases with midface hypoplasia using rigid external distractor: an alternative technique.

    Science.gov (United States)

    Dua, Gaurav; Navin Kumar, Andrews; Roy, Indranil Deb; Roy, Supriyo Kumar

    2014-05-01

    Patients with operated cleft lip and palate present with a problem of midface hypoplasia, and such patients have been traditionally treated with orthognathic surgery. Such a procedure has its own limitations of relapse and hence a newer modality of distraction osteogenesis with histiogenesis can be chosen to overcome such limitations for midfacial advancement. The purpose of this study is to evaluate an alternative technique and its postoperative stability in maxillary distraction osteogenesis in patients of cleft lip and cleft palate using a rigid external device (RED). Nine patients with midface bone stock deficiency were selected for maxillary advancement. At the first surgery under general anesthesia, after Le Fort I osteotomy, RED system was used with the alternative technique. After distraction, evaluation was done for ease of the procedure, stability, and complications. Lateral cephalograms were evaluated at 3 stages: T1, pre-distraction; T2, post-distraction; and T3, 1 year post-distraction. A mean 13.4-mm midface advancement was shown with bone formation at the pterygomaxillary region without losing the vector and having a standby mode in case the wire broke during distraction The results were stable even at 1 year of follow-up. Maxillary position improved in relation to the cranial base. This study showed that the RED was versatile in midface advancement.

  12. Progressive behavioral changes during the maturation of rats with early radiation-induced hypoplasia of fascia dentata granule cells

    International Nuclear Information System (INIS)

    Mickley, G.A.; Ferguson, J.L.; Mulvihill, M.A.; Nemeth, T.J.

    1989-01-01

    Localized exposure of the neonatal rat brain to X-rays produces neuronal hypoplasia specific to the granule cell layer of the hippocampal dentate gyrus. This brain damage causes locomotor hyperactivity, slowed acquisition of passive avoidance tasks and long bouts of spontaneous turning (without reversals) in a bowl apparatus. Here we report how these behavioral deficits change as a function of subject aging and behavioral test replications. Portions of the neonatal rat cerebral hemispheres were X-irradiated in order to selectively damage the granule cells of the dentate gyrus. The brains of experimental animals received a fractionated dose of X rays (13 Gy total) over postnatal days 1 to 16 and control animals were sham-irradiated. Rats between the ages of 71-462 days were tested 3 separate times on each of the following 3 behavioral tests: (1) spontaneous locomotion, (2) passive avoidance acquisition, and (3) spontaneous circling in a large plastic hemisphere. Rats with radiation-induced damage to the fascia dentata exhibited long bouts of slow turns without reversals. Once they began, irradiated subjects perseverated in turning to an extent significantly greater than sham-irradiated control subjects. This irradiation effect was significant during all test series. Moreover, in time, spontaneous perseverative turning was significantly potentiated in rats with hippocampal damage but increased only slightly in controls. Early radiation exposure produced locomotor hyperactivity in young rats. While activity levels of controls remained fairly stable throughout the course of the experiment, the hyperactivity of the irradiated animals decreased significantly as they matured

  13. Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

    Science.gov (United States)

    Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

    2009-11-01

    To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

  14. Optical coherence tomography detection of characteristic retinal nerve fiber layer thinning in nasal hypoplasia of the optic disc.

    Science.gov (United States)

    Haruta, M; Kodama, R; Yamakawa, R

    2017-12-01

    PurposeTo determine the clinical usefulness of optical coherence tomography (OCT) for detecting thinning of the retinal nerve fiber layer (RNFL) in eyes with nasal hypoplasia of the optic discs (NHOD).Patients and methodsThe medical records of five patients (eight eyes) with NHOD were reviewed. The ratio of the disc-macula distance to the disc diameter (DM/DD) and the disc ovality ratio of the minimal to maximal DD were assessed using fundus photographs. The RNFL thicknesses of the temporal, superior, nasal, and inferior quadrants were evaluated using OCT quadrant maps.ResultsAll eight eyes had temporal visual field defects that respected the vertical meridians that needed to be differentiated from those related to chiasmal compression. The mean DM/DD ratio was 3.1 and the mean disc ovality ratio was 0.81. The mean RNFL thicknesses of the temporal, superior, nasal, and inferior quadrants were 90.3, 103.1, 34.8, and 112.8 microns, respectively.ConclusionSmall optic discs and tilted discs might be associated with NHOD. Measurement of the RNFL thickness around the optic disc using OCT scans clearly visualized the characteristic RNFL thinning of the nasal quadrants corresponding to the temporal sector visual field defects in eyes with NHOD. OCT confirmed the presence of NHOD and might differentiate eyes with NHOD from those with chiasmal compression.

  15. 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

  16. 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.

  17. 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.

  18. Facial duplication: case, review, and embryogenesis.

    Science.gov (United States)

    Barr, M

    1982-04-01

    The craniofacial anatomy of an infant with facial duplication is described. There were four eyes, two noses, two maxillae, and one mandible. Anterior to the single pituitary the brain was duplicated and there was bilateral arhinencephaly. Portions of the brain were extruded into a large frontal encephalocele. Cases of symmetrical facial duplication reported in the literature range from two complete faces on a single head (diprosopus) to simple nasal duplication. The variety of patterns of duplication suggests that the doubling of facial components arises in several different ways: Forking of the notochord, duplication of the prosencephalon, duplication of the olfactory placodes, and duplication of maxillary and/or mandibular growth centers around the margins of the stomatodeal plate. Among reported cases, the female:male ratio is 2:1.

  19. The history of facial palsy and spasm

    Science.gov (United States)

    Sajadi, Mohamad-Reza M.; Tabatabaie, Seyed Mahmoud

    2011-01-01

    Although Sir Charles Bell was the first to provide the anatomic basis for the condition that bears his name, in recent years researchers have shown that other European physicians provided earlier clinical descriptions of peripheral cranial nerve 7 palsy. In this article, we describe the history of facial distortion by Greek, Roman, and Persian physicians, culminating in Razi's detailed description in al-Hawi. Razi distinguished facial muscle spasm from paralysis, distinguished central from peripheral lesions, gave the earliest description of loss of forehead wrinkling, and gave the earliest known description of bilateral facial palsy. In doing so, he accurately described the clinical hallmarks of a condition that we recognize as Bell palsy. PMID:21747074

  20. The history of injectable facial fillers.

    Science.gov (United States)

    Kontis, Theda C; Rivkin, Alexander

    2009-05-01

    In an attempt to maintain a youthful appearance or to reconstruct facial deformities, physicians have greeted new technologies with excitement. In the late 1800 s, shortly after the invention of the syringe, chemical agents were used for facial augmentation. Unfortunately, history has taught us that new technologies must be used with care, because complications can occur, sometimes many years after initial treatment. The first injectable filling agent was paraffin, whose use was abandoned after complications of migration, embolization, and granuloma formation were described. More recently, silicone use was banned by the U.S. Food and Drug Administration (FDA) because of similar complications. In 1981, bovine collagen was the first agent to be approved by the FDA for cosmetic injection. Since its approval, dozens of injectable filling agents have been developed, and many are already FDA approved for cosmetic use. This article will review the highlights of the evolution of facial filling agents.

  1. Granuloma Faciale Treatment: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Claudia Lindhaus

    2017-10-01

    Full Text Available Granuloma faciale is an uncommon benign chronic dermatosis characterized by reddish-brown to violaceous asymptomatic plaques appearing predominantly on the face. The pathogenesis of granuloma faciale remains unclear, and it is frequently unresponsive to therapy. This systematic review aims to summarize all recent publications on the management of granuloma faciale. The publications are mainly individual case reports, small case series and a few retrospective studies. Treatment options included topical, intralesional and systemic corticosteroids, topical pimecrolimus and tacrolimus, topical and systemic dapsone, systemic hydroxychloroquine, clofazimine, and tumour necrosis factor-alpha inhibitors. More invasive therapies using lasers as well as cryosurgery and surgery were also reported. Topical glucocorticosteroids and tacrolimus remain treatments of first choice, possibly supplemented by topical dapsone.

  2. Unilateral facial pain and lung cancer

    International Nuclear Information System (INIS)

    Shakespeare, T.P.; Stevens, M.J.

    1996-01-01

    Facial pain in lung cancer patients may be secondary to metastatic disease to the brain or skull base. Since 1983 there have been 19 published reports of hemi-facial pain as a non-metastatic complication of lung carcinoma. This report describes an additional case in whom unilateral face pain preceded the diagnosis of lung cancer by 9 months. A clinical diagnosis of trigeminal neuralgia was made after a normal brain CT scan. Later on the patient complained of global lethargy, weight loss and haemoptysis. A chest X-ray disclosed a 6 cm right hilar mass that was further defined with a whole body CT scan. The neural mechanism of the unilateral facial pain is discussed and the literature reviewed. 14 refs., 1 tab

  3. Unilateral facial pain and lung cancer

    Energy Technology Data Exchange (ETDEWEB)

    Shakespeare, T.P.; Stevens, M.J. [Royal North Shore Hospital, Crows Nest, NSW (Australia)

    1996-02-01

    Facial pain in lung cancer patients may be secondary to metastatic disease to the brain or skull base. Since 1983 there have been 19 published reports of hemi-facial pain as a non-metastatic complication of lung carcinoma. This report describes an additional case in whom unilateral face pain preceded the diagnosis of lung cancer by 9 months. A clinical diagnosis of trigeminal neuralgia was made after a normal brain CT scan. Later on the patient complained of global lethargy, weight loss and haemoptysis. A chest X-ray disclosed a 6 cm right hilar mass that was further defined with a whole body CT scan. The neural mechanism of the unilateral facial pain is discussed and the literature reviewed. 14 refs., 1 tab.

  4. Genetics Home Reference: oral-facial-digital syndrome

    Science.gov (United States)

    ... related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits ( ... this disorder involve problems with development of the oral cavity , facial features, and digits. Most forms are also ...

  5. Environmental exogenous factors and facial dermatitis: A case control study

    Directory of Open Access Journals (Sweden)

    Wen-Hui Wang

    2017-03-01

    Conclusions: Contact factors play an important role in facial dermatitis. Aggravation by sunlight exposure, ingestion of spicy food, or alcohol are more reported in facial dermatitis compared with nonfacial dermatitis.

  6. 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.

  7. Trisomy 21 and facial developmental instability.

    Science.gov (United States)

    Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

    2013-05-01

    The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. Copyright © 2013 Wiley Periodicals, Inc.

  8. 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.

  9. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

    Science.gov (United States)

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-10-24

    Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

  10. 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...

  11. Automatic Generation of Facial Expression Using Triangular Geometric Deformation

    OpenAIRE

    Jia-Shing Sheu; Tsu-Shien Hsieh; Ho-Nien Shou

    2014-01-01

    This paper presents an image deformation algorithm and constructs an automatic facial expression generation system to generate new facial expressions in neutral state. After the users input the face image in a neutral state into the system, the system separates the possible facial areas and the image background by skin color segmentation. It then uses the morphological operation to remove noise and to capture the organs of facial expression, such as the eyes, mouth, eyebrow, and nose. The fea...

  12. 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.

  13. 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.

  14. Posterior fossa gangliocytoma with facial nerve invasion: case report

    Directory of Open Access Journals (Sweden)

    Koerbel Andrei

    2003-01-01

    Full Text Available A 5 year-old boy with a cerebellar gangliocytoma with a peripheral right facial paresis and ataxia is presented. His MRI showed a heterogenous, diffuse lesion, isointense on T1 and hyperintense on T2-weigthed sequences, involving the right cerebellar hemisphere with direct extension into the right facial nerve. The present case is the first description of a gangliocytoma with direct facial nerve invasion, as demonstrated for the facial nerve paresis and supported by MRI and surgical inspection.

  15. Facial Nerve Schwannoma of the Cerebellopontine Angle: A Diagnostic Challenge

    OpenAIRE

    Lassaletta, Luis; Roda, José María; Frutos, Remedios; Patrón, Mercedes; Gavilán, Javier

    2002-01-01

    Facial nerve schwannomas are rare lesions that may involve any segment of the facial nerve. Because of their rarity and the lack of a consistent clinical and radiological pattern, facial nerve schwannomas located at the cerebellopontine angle (CPA) and internal auditory canal (IAC) represent a diagnostic and therapeutic challenge for clinicians. In this report, a case of a CPA/IAC facial nerve schwannoma is presented. Contemporary diagnosis and management of this rare lesion are analyzed.

  16. Idiopathic facial pain related with dental implantation

    Directory of Open Access Journals (Sweden)

    Tae-Geon Kwon

    2016-06-01

    Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

  17. 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.

  18. Violent Media Consumption and the Recognition of Dynamic Facial Expressions

    Science.gov (United States)

    Kirsh, Steven J.; Mounts, Jeffrey R. W.; Olczak, Paul V.

    2006-01-01

    This study assessed the speed of recognition of facial emotional expressions (happy and angry) as a function of violent media consumption. Color photos of calm facial expressions morphed to either an angry or a happy facial expression. Participants were asked to make a speeded identification of the emotion (happiness or anger) during the morph.…

  19. 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.

  20. Intraparotid facial nerve schwannoma: Report of two cases

    Directory of Open Access Journals (Sweden)

    Seyyed Basir Hashemi

    2008-07-01

    Full Text Available Introduction: Intra parotid facial nerve schowannoma is a rare tumor. Case report: In this article we presented two cases of intra parotid facial nerve schowannoma. In two cases tumor presented with asymptomatic parotid mass that mimic pleomorphic adenoma. No preoperative facial nerve dysfunction in cases is detected. Diagnostic result and surgical management are discussed in this paper.  

  1. Contralateral reinnervation of midline muscles in nonidiopathic facial palsy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Beurskens, C.H.G.; Vries, J. de; Marres, H.A.M.; Hartman, E.H.M.; Zwarts, M.J.

    2003-01-01

    The purpose of this study was to analyze contralateral reinnervation of the facial nerve in eight patients with complete facial palsy after surgery or trauma and seven healthy volunteers. All patients had contralateral reinnervation of facial muscles as demonstrated by electrical nerve stimulation

  2. 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.

  3. 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 ...

  4. A neuroendocrine account of facial mimicry and its dynamic modulation

    NARCIS (Netherlands)

    Kraaijenvanger, Eline J.; Hofman, Dennis; Bos, Peter A.

    2017-01-01

    Facial expressions are considered central in conveying information about one's emotional state. During social encounters, facial expressions of another individual are often automatically imitated by the observer, a process referred to as ‘facial mimicry’. This process is assumed to facilitate

  5. Fully Automatic Recognition of the Temporal Phases of Facial Actions

    NARCIS (Netherlands)

    Valstar, M.F.; Pantic, Maja

    Past work on automatic analysis of facial expressions has focused mostly on detecting prototypic expressions of basic emotions like happiness and anger. The method proposed here enables the detection of a much larger range of facial behavior by recognizing facial muscle actions [action units (AUs)

  6. Decoding Facial Expressions: A New Test with Decoding Norms.

    Science.gov (United States)

    Leathers, Dale G.; Emigh, Ted H.

    1980-01-01

    Describes the development and testing of a new facial meaning sensitivity test designed to determine how specialized are the meanings that can be decoded from facial expressions. Demonstrates the use of the test to measure a receiver's current level of skill in decoding facial expressions. (JMF)

  7. Meta-Analysis of the First Facial Expression Recognition Challenge

    NARCIS (Netherlands)

    Valstar, M.F.; Mehu, M.; Jiang, Bihan; Pantic, Maja; Scherer, K.

    Automatic facial expression recognition has been an active topic in computer science for over two decades, in particular facial action coding system action unit (AU) detection and classification of a number of discrete emotion states from facial expressive imagery. Standardization and comparability

  8. Some Aspects of Facial Nerve Paralysis. Part III. Complications ...

    African Journals Online (AJOL)

    Some Aspects of Facial Nerve Paralysis. Part III. Complications, Prognosis and management. ... It should be possible to set a definite prognosis within 2 weeks after the onset of facial paralysis, and in many cases even sooner. In the prognosis of facial paralysis the aetiological and time factors involved, the completeness of ...

  9. 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

  10. Doubly Sparse Relevance Vector Machine for Continuous Facial Behavior Estimation

    NARCIS (Netherlands)

    Kaltwang, Sebastian; Todorovic, Sinisa; Pantic, Maja

    Certain inner feelings and physiological states like pain are subjective states that cannot be directly measured, but can be estimated from spontaneous facial expressions. Since they are typically characterized by subtle movements of facial parts, analysis of the facial details is required. To this

  11. 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…

  12. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

    Science.gov (United States)

    Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

    2017-06-01

    Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

  13. 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

  14. 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.

  15. 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…

  16. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

    Directory of Open Access Journals (Sweden)

    Durković Jasmina

    2014-01-01

    Full Text Available Introduction. X-linked adrenal hypoplasia congenita (AHC is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3 levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

  17. A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM.

    Directory of Open Access Journals (Sweden)

    Martina Gerber

    Full Text Available Dandy-Walker-like malformation (DWLM is the result of aberrant brain development and mainly characterized by cerebellar hypoplasia. DWLM affected dogs display a non-progressive cerebellar ataxia. Several DWLM cases were recently observed in the Eurasier dog breed, which strongly suggested a monogenic autosomal recessive inheritance in this breed. We performed a genome-wide association study (GWAS with 9 cases and 11 controls and found the best association of DWLM with markers on chromosome 1. Subsequent homozygosity mapping confirmed that all 9 cases were homozygous for a shared haplotype in this region, which delineated a critical interval of 3.35 Mb. We sequenced the genome of an affected Eurasier and compared it with the Boxer reference genome and 47 control genomes of dogs from other breeds. This analysis revealed 4 private non-synonymous variants in the critical interval of the affected Eurasier. We genotyped these variants in additional dogs and found perfect association for only one of these variants, a single base deletion in the VLDLR gene encoding the very low density lipoprotein receptor. This variant, VLDLR:c.1713delC is predicted to cause a frameshift and premature stop codon (p.W572Gfs*10. Variants in the VLDLR gene have been shown to cause congenital cerebellar ataxia and mental retardation in human patients and Vldlr knockout mice also display an ataxia phenotype. Our combined genetic data together with the functional knowledge on the VLDLR gene from other species thus strongly suggest that VLDLR:c.1713delC is indeed causing DWLM in Eurasier dogs.

  18. Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Benjamin M. Kahn

    2017-01-01

    Full Text Available Septo-optic dysplasia (SOD is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition. Here, we address the hypothesis that SOD is a multifactorial disorder stemming from interactions between mutations in Shh pathway genes and prenatal ethanol exposure. Mouse embryos with mutations in the Shh co-receptor, Cdon, were treated in utero with ethanol or saline at embryonic day 8 (E8.0 and evaluated for optic nerve hypoplasia (ONH, a prominent feature of SOD. We show that both Cdon−/− mutation and prenatal ethanol exposure independently cause ONH through a similar pathogenic mechanism that involves selective inhibition of Shh signaling in retinal progenitor cells, resulting in their premature cell-cycle arrest, precocious differentiation and failure to properly extend axons to the optic nerve. The ONH phenotype was not exacerbated in Cdon−/− embryos treated with ethanol, suggesting that an intact Shh signaling pathway is required for ethanol to exert its teratogenic effects. These results support a model whereby mutations in Cdon and prenatal ethanol exposure increase SOD risk through spatiotemporal perturbations in Shh signaling activity.

  19. Optical Coherence Tomography in Optic Nerve Hypoplasia: Correlation With Optic Disc Diameter, Nerve Fiber Layer Thickness, and Visual Function.

    Science.gov (United States)

    Kelly, John P; Baran, Francine; Phillips, James O; Weiss, Avery H

    2017-12-15

    The correlation between optic disc diameters (DDs) with average retinal nerve fiber layer thickness (RNFLT) and visual function in children with optic nerve hypoplasia (ONH) having nystagmus is unknown. Data were obtained from a retrospective review of 28 children (mean age: 9.4 years; ±5.1). Optic DD was defined as the maximal horizontal opening of Bruch membrane with spectral optical coherence tomography combined with a confocal laser ophthalmoscope. Average RNFLT was obtained from circumpapillary b-scans. RNFLT was also remeasured at eccentricities that were proportionate with DD to rule out potential sampling artifacts. Visual function was assessed by visual acuity at last follow-up and by visual evoked potentials (VEP) in 11 patients. The eye with the larger DD, which had better visual acuity, was analyzed to exclude potential effects of amblyopia. DD was correlated with average RNFLT (r = 0.61), visual acuity (r = 0.32), and VEPs (r = 0.66). The relationship between RNFLT and DD was as follows: average RNFLT (μm) = 0.074 * DD (μm) - 18.8. RNFLT also correlated with the ratio of horizontal optic DD to macula-disc-margin distance (DD:DM; r = 0.59). RNFLT measured at eccentricities proportionate with DD showed progressive decrease in thickness only for DDs <1,100 μm. All patients with DD <1,000 μm had subnormal visual acuity, whereas those with DD <1,200 μm had subnormal VEPs. DD correlates with average RNFLT and with visual function in children with ONH. Using OCT imaging, DD can be obtained in children with nystagmus and provides objective information.

  20. Annotation: Velo-Cardio-Facial Syndrome

    Science.gov (United States)

    Murphy, K. C.

    2005-01-01

    Background: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and…

  1. Modern approach to facial skin defects reconstruction

    Directory of Open Access Journals (Sweden)

    Mateusz Kister

    2017-10-01

    Full Text Available Reconstruction of a facial defect is usually a challenging endeavor. The article aims to describe different types of flaps that might be used to restore such deformities- including their characteristics, indications and guidelines that should be followed in the reconstructive procedures.

  2. Minimally invasive brow suspension for facial paralysis.

    Science.gov (United States)

    Costantino, Peter D; Hiltzik, David H; Moche, Jason; Preminger, Aviva

    2003-01-01

    To report a new technique for unilateral brow suspension for facial paralysis that is minimally invasive, limits supraciliary scar formation, does not require specialized endoscopic equipment or expertise, and has proved to be equal to direct brow suspension in durability and symmetry. Retrospective survey of a case series of 23 patients between January 1997 and December 2000. Metropolitan tertiary care center. Patients with head and neck tumors and brow ptosis caused by facial nerve paralysis. The results of the procedure were determined using the following 3-tier rating system: outstanding (excellent elevation and symmetry); acceptable (good elevation and fair symmetry); and unacceptable (loss of elevation). The results were considered outstanding in 12 patients, acceptable in 9 patients, and unacceptable in only 1 patient. One patient developed a hematoma, and 1 patient required a secondary adjustment. The technique has proved to be superior to standard brow suspension procedures with regard to scar formation and equal with respect to facial symmetry and suspension. These results have caused us to abandon direct brow suspension and to use this minimally invasive method in all cases of brow ptosis due to facial paralysis.

  3. Exporting vector muscles for facial animation

    NARCIS (Netherlands)

    Bui, T.D.; Butz, Andreas; Kruger, Antonio; Heylen, Dirk K.J.; Olivier, Patrick; Nijholt, Antinus; Poel, Mannes

    2003-01-01

    In this paper we introduce a method of exporting vector muscles from one 3D face to another for facial animation. Starting from a 3D face with an extended version of Waters’ linear muscle system, we transfer the linear muscles to a target 3D face.We also transfer the region division, which is used

  4. Searching for Prototypical Facial Feedback Signals

    NARCIS (Netherlands)

    Heylen, Dirk K.J.; Bevacqua, E.; Tellier, M.; Pelachaud, C.; Pelachaud, C.; Martin, J-C.; André, E.; Chollet, G.; Pelé, D.

    2007-01-01

    Embodied conversational agents should be able to provide feedback on what a human interlocutor is saying. We are compiling a list of facial feedback expressions that signal attention and interest, grounding and attitude. As expressions need to serve many functions at the same time and most of the

  5. Judgment of facial expressions and depression persistence

    NARCIS (Netherlands)

    Hale, WW

    1998-01-01

    In research it has been demonstrated that cognitive and interpersonal processes play significant roles in depression development and persistence. The judgment of emotions displayed in facial expressions by depressed patients allows for a better understanding of these processes. In this study, 48

  6. Biased Facial Expression Interpretation in Shy Children

    Science.gov (United States)

    Kokin, Jessica; Younger, Alastair; Gosselin, Pierre; Vaillancourt, Tracy

    2016-01-01

    The relationship between shyness and the interpretations of the facial expressions of others was examined in a sample of 123 children aged 12 to 14?years. Participants viewed faces displaying happiness, fear, anger, disgust, sadness, surprise, as well as a neutral expression, presented on a computer screen. The children identified each expression…

  7. A Facial Control Method Using Emotional Parameters in Sensibility Robot

    Science.gov (United States)

    Shibata, Hiroshi; Kanoh, Masayoshi; Kato, Shohei; Kunitachi, Tsutomu; Itoh, Hidenori

    The “Ifbot” robot communicates with people by considering its own “emotions”. Ifbot has many facial expressions to communicate enjoyment. These are used to express its internal emotions, purposes, reactions caused by external stimulus, and entertainment such as singing songs. All these facial expressions are developed by designers manually. Using this approach, we must design all facial motions, if we want Ifbot to express them. It, however, is not realistic. We have therefore developed a system which convert Ifbot's emotions to its facial expressions automatically. In this paper, we propose a method for creating Ifbot's facial expressions from parameters, emotional parameters, which handle its internal emotions computationally.

  8. 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.

  9. Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18(q21.32-qter investigated by FISH and array-CGH: Case report

    Directory of Open Access Journals (Sweden)

    Kokotas Haris

    2008-11-01

    Full Text Available Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile and his height 120 cm (50th percentile. High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18(q21.32-qter in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation.

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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.”

  18. 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.

  19. 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.

  20. Effects of Face and Background Color on Facial Expression Perception

    Directory of Open Access Journals (Sweden)

    Tetsuto Minami

    2018-06-01

    Full Text Available Detecting others’ emotional states from their faces is an essential component of successful social interaction. However, the ability to perceive emotional expressions is reported to be modulated by a number of factors. We have previously found that facial color modulates the judgment of facial expression, while another study has shown that background color plays a modulatory role. Therefore, in this study, we directly compared the effects of face and background color on facial expression judgment within a single experiment. Fear-to-anger morphed faces were presented in face and background color conditions. Our results showed that judgments of facial expressions was influenced by both face and background color. However, facial color effects were significantly greater than background color effects, although the color saturation of faces was lower compared to background colors. These results suggest that facial color is intimately related to the judgment of facial expression, over and above the influence of simple color.

  1. 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.

  2. The influence of context on distinct facial expressions of disgust.

    Science.gov (United States)

    Reschke, Peter J; Walle, Eric A; Knothe, Jennifer M; Lopez, Lukas D

    2018-06-11

    Face perception is susceptible to contextual influence and perceived physical similarities between emotion cues. However, studies often use structurally homogeneous facial expressions, making it difficult to explore how within-emotion variability in facial configuration affects emotion perception. This study examined the influence of context on the emotional perception of categorically identical, yet physically distinct, facial expressions of disgust. Participants categorized two perceptually distinct disgust facial expressions, "closed" (i.e., scrunched nose, closed mouth) and "open" (i.e., scrunched nose, open mouth, protruding tongue), that were embedded in contexts comprising emotion postures and scenes. Results demonstrated that the effect of nonfacial elements was significantly stronger for "open" disgust facial expressions than "closed" disgust facial expressions. These findings provide support that physical similarity within discrete categories of facial expressions is mutable and plays an important role in affective face perception. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  3. 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.

  4. 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

  5. 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)

  6. 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

  7. 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.

  8. 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.

  9. 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

  10. Patient-Reported Esthetic and Functional Outcomes of Primary Total Laparoscopic Intestinal Vaginoplasty in Transgender Women With Penoscrotal Hypoplasia.

    Science.gov (United States)

    Bouman, Mark-Bram; van der Sluis, Wouter B; van Woudenberg Hamstra, Leonora E; Buncamper, Marlon E; Kreukels, Baudewijntje P C; Meijerink, Wilhelmus J H J; Mullender, Margriet G

    2016-09-01

    Puberty-suppressing hormonal treatment may result in penoscrotal hypoplasia in transgender women, making standard penile inversion vaginoplasty not feasible. For these patients, intestinal vaginoplasty is a surgical alternative, but knowledge on patient-reported postoperative outcomes and quality of life is lacking. To assess patient-reported functional and esthetic outcomes, quality of life, satisfaction, and sexual well-being after primary total laparoscopic intestinal vaginoplasty in transgender women. A survey study was performed on transgender women who underwent primary total laparoscopic intestinal vaginoplasty with at least 1 year of clinical follow-up. Thirty-one transgender women completed the questionnaires (median age at time of surgery = 19.1 years, range = 18.3-45.0) after a median clinical follow-up of 2.2 years (range = 0.8-7.5). Consenting women were asked to complete a combined questionnaire of the Subjective Happiness Scale, the Satisfaction With Life Scale, Cantril's Ladder of Life Scale, the Female Sexual Function Index, the Female Genital Self-Imaging Scale, the Amsterdam Hyperactive Pelvic Floor Scale-Women, and a questionnaire addressing postoperative satisfaction. Patient-reported functional and esthetic outcomes and postoperative quality of life. Patients graded their life satisfaction a median of 8.0 (range = 4.0-10.0) on Cantril's Ladder of Life Scale. Patients scored a mean total score of 27.7 ± 5.8 on the Satisfaction With Life Scale, which indicated high satisfaction with life, and a mean total score of 5.6 ± 1.4 on the Subjective Happiness Scale. Functionality was graded a median score of 8.0 of 10 (range = 1.0-10.0) and esthetics a score of 8.0 out of 10 (range = 3.0-10.0). The mean Female Sexual Function Index total score of sexually active transgender women was 26.0 ± 6.8. This group of relatively young transgender women reported satisfactory functional and esthetic results of the neovagina and a good quality of life

  11. Comparison of Heidelberg Retina Tomograph with disc-macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia.

    Science.gov (United States)

    Pang, Yi; Frantz, Kelly A

    2016-05-01

    To evaluate whether Heidelberg Retinal Tomograph (HRT) is a valid test for diagnosing congenital optic nerve hypoplasia (CONH) compared to the ratio of the distance between the centre of the optic disc and the centre of the macula and the mean optic disc diameter (DM:DD ratio). Furthermore, to determine the optimal cut-off value of HRT disc area to differentiate a hypoplastic disc from a normal optic disc. A total of 33 subjects with CONH (4-67 years old) and 160 normal subjects (5-65 years old) were recruited and underwent comprehensive eye examinations, fundus photography and HRT. Receiver operating characteristic curves for DM:DD ratio and HRT disc area were constructed based on data from the 46 CONH eyes and 160 control eyes. Mean (±S.D.) HRT disc area was 1.94 (±0.54) mm(2) for the control eyes and 0.84 (±0.35) mm(2) for the CONH eyes (p < 0.0001). The area under the curve (AUC) for DM:DD ratio was 0.83 (95% confidence interval: 0.76-0.90). The AUC for HRT disc area was 0.96 (95% confidence interval: 0.94-0.99). A statistically significant difference was found between AUC for HRT disc area and that for DM:DD ratio (p = 0.0004). The optimal cut-off value for HRT disc area was 1.42 mm(2) with 95% sensitivity and 85% specificity. The optimal cut-off value for DM:DD ratio was 3.20 with 78% sensitivity and 78% specificity. Both HRT and the DM:DD ratio are valid tests to aid diagnosis of CONH. HRT is superior to DM:DD ratio in diagnosing CONH with higher sensitivity and specificity. We suggest the optimal cut-off value for HRT disc area as 1.42 mm(2) in order to discriminate a hypoplastic disc from a normal optic disc. © 2016 The Authors Ophthalmic & Physiological Optics © 2016 The College of Optometrists.

  12. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

    Science.gov (United States)

    2010-01-01

    Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral) caused by mutations in a yet unidentified gene is responsible for: 1) skeletal dysplasia, 2) inappropriate interactions between the bronchial mesoderm and endodermal

  13. 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.

  14. 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.

  15. 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.

  16. Perioperative management of facial bipartition surgery

    Directory of Open Access Journals (Sweden)

    Caruselli M

    2015-11-01

    Full Text Available Marco Caruselli,1 Michael Tsapis,1,2 Fabrice Ughetto,1 Gregoire Pech-Gourg,3 Dario Galante,4 Olivier Paut1 1Anesthesia and Intensive Care Unit, La Timone Children’s Hospital, 2Pediatric Transport Team, SAMU 13, La Timone Hospital, 3Pediatric Neurosurgery Unit, La Timone Children’s Hospital, Marseille, France; 4Anesthesia and Intensive Care Unit, University Hospital Ospedali Riuniti of Foggia, Foggia, Italy Abstract: Severe craniofacial malformations, such as Crouzon, Apert, Saethre-Chotzen, and Pfeiffer syndromes, are very rare conditions (one in 50,000/100,000 live births that often require corrective surgery. Facial bipartition is the more radical corrective surgery. It is a high-risk intervention and needs complex perioperative management and a multidisciplinary approach. Keywords: craniofacial surgery, facial bipartition surgery, craniofacial malformations, pediatric anesthesia

  17. Comparison of hemihypoglossal-facial nerve transposition with a cross-facial nerve graft and muscle transplant for the rehabilitation of facial paralysis using the facial clima method.

    Science.gov (United States)

    Hontanilla, Bernardo; Vila, Antonio

    2012-02-01

    To compare quantitatively the results obtained after hemihypoglossal nerve transposition and microvascular gracilis transfer associated with a cross facial nerve graft (CFNG) for reanimation of a paralysed face, 66 patients underwent hemihypoglossal transposition (n = 25) or microvascular gracilis transfer and CFNG (n = 41). The commissural displacement (CD) and commissural contraction velocity (CCV) in the two groups were compared using the system known as Facial clima. There was no inter-group variability between the groups (p > 0.10) in either variable. However, intra-group variability was detected between the affected and healthy side in the transposition group (p = 0.036 and p = 0.017, respectively). The transfer group had greater symmetry in displacement of the commissure (CD) and commissural contraction velocity (CCV) than the transposition group and patients were more satisfied. However, the transposition group had correct symmetry at rest but more asymmetry of CCV and CD when smiling.

  18. Medical makeup for concealing facial scars.

    Science.gov (United States)

    Mee, Donna; Wong, Brian J F

    2012-10-01

    Surgical, laser, and pharmacological therapies are all used to correct scars and surgical incisions, though have limits with respect to how well facial skin can be restored or enhanced. The use of cosmetics has long been a relevant adjunct to all scar treatment modalities. In recent years, technical advancements in the chemistry and composition of cosmetic products have provided the patient with a broader range of products to employ for concealing scars. This review will provide an overview of contemporary methods for concealing facial scars, birthmarks, and pigmentary changes without the use of traditional/dated, heavy appearing camouflage products. Additionally, general guidelines and information will be provided with respect to identifying competent makeup artists for care of the medical patient. The article by no means is meant to be a tutorial, but rather serves as a starting point in this allied field of medicine. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  19. Automatic recognition of emotions from facial expressions

    Science.gov (United States)

    Xue, Henry; Gertner, Izidor

    2014-06-01

    In the human-computer interaction (HCI) process it is desirable to have an artificial intelligent (AI) system that can identify and categorize human emotions from facial expressions. Such systems can be used in security, in entertainment industries, and also to study visual perception, social interactions and disorders (e.g. schizophrenia and autism). In this work we survey and compare the performance of different feature extraction algorithms and classification schemes. We introduce a faster feature extraction method that resizes and applies a set of filters to the data images without sacrificing the accuracy. In addition, we have enhanced SVM to multiple dimensions while retaining the high accuracy rate of SVM. The algorithms were tested using the Japanese Female Facial Expression (JAFFE) Database and the Database of Faces (AT&T Faces).

  20. Clinic-Radiological Study of facial paralysis

    International Nuclear Information System (INIS)

    Olier, J.; Bacaicoa, M.C.; Guridi, J.; Gil, J.L.; Elcarte, F.; Delgado, G.

    1992-01-01

    We have gathered 159 cases of facial paralysis from recent records in our hospital, including paralyses of central as well as peripheral origin, and presenting as the only symptom or as one of several major symptoms of the discomfort of each patient. Sixty-four percent of them were studied by CT scan and/or MR, confirming the existence of alterations in the pathway of nerve pair VII in 50% of the patients who underwent radiological study. Idiopathic facial paralysis was the most common type (42% of the total); while tumors and post-traumatic findings were the most constant radiological findings. From the analysis of the data, the importance of the clinical criteria for selection of the patients in the study and the protocol for radiological diagnosis employed can be deduced. (author)