Surgical repair of a congenital sternal cleft in a cat.

Science.gov (United States)

Schwarzkopf, Ilona; Bavegems, Valerie C A; Vandekerckhove, Peter M F P; Melis, Sanne M; Cornillie, Pieter; de Rooster, Hilde

2014-07-01

To describe the clinical findings, diagnosis, and treatment of an incomplete cleft of the 5th-8th sternebra and a cranioventral abdominal wall hernia in a 2 month old Ragdoll kitten and to evaluate the short- and long-term outcome. Clinical report. Ragdoll cat (n = 1), 2 months old. Sternal cleft was confirmed by thoracic radiographs. Computed tomography (CT) was used to plan an optimal surgical approach. A ventral median incision was made, starting at the 3rd sternebra and extended into the abdomen. Ostectomy of the proximal part of the 5th left sternebra was performed. Lateral periosteal flaps were created, unfolded, and absorbable monofilament sutures preplaced to facilitate closure and the repair was reinforced by 2 peristernal sutures. A bone graft was applied, and the free margin of the omentum was sutured to the cranial aspect of the wound. No major complications occurred. At 3 weeks, CT scan confirmed approximation of the hemisternebrae and at 10 months, complete fusion of the hemisternebrae had not occurred, but a strong connection of the sternal bars was present. Sternal cleft is a rare congenital abnormality that can be corrected surgically with favorable outcome. © Copyright 2014 by The American College of Veterinary Surgeons.

Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: Clefts, aneurysms, diverticula and terminology problems

International Nuclear Information System (INIS)

Erol, Cengiz; Koplay, Mustafa; Olcay, Ayhan; Kivrak, Ali Sami; Ozbek, Seda; Seker, Mehmet; Paksoy, Yahya

2012-01-01

Objectives: Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Materials and methods: Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. Results: The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P = 0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal–apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Conclusion: Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two.

Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

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Anisha Seth

2015-01-01

Full Text Available Optic disc pit (ODP is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.

Transoral robotic surgery-assisted excision of a congenital cervical salivary duct fistula presenting as a branchial cleft fistula.

Science.gov (United States)

Rassekh, Christopher H; Kazahaya, Ken; Livolsi, Virginia A; Loevner, Laurie A; Cowan, Andy T; Weinstein, Gregory S

2016-02-01

Congenital cervical salivary duct fistulae are rare entities and can mimic branchial cleft fistulae. Ectopic salivary tissue associated with these pharyngocervical tracts may have malignant potential. We present a case report of a novel surgical approach and review of the literature. A 27-year-old man presented with complaint of drainage from the right side of his neck since early childhood. A tract was found from the posterior tonsillar pillar into the neck and ectopic salivary tissue was found along the tract. A congenital hearing loss was also present. Transoral robotic (TORS)-assisted surgery was used in the management of this patient and allowed excellent visualization of the pharyngeal component of the lesion and a minimally invasive approach. The patient did well with no recurrence. TORS was helpful for management of a congenital salivary fistula and may be helpful for branchial cleft fistulae. These lesions may be associated with the branchio-oto-renal (BOR) syndrome. © 2015 Wiley Periodicals, Inc.

Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts

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Jan D. Raguse

2017-01-01

Full Text Available Background. Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Methods. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ERα in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Results. Expression of ERα was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1 were found. Conclusion. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts.

Science.gov (United States)

Raguse, Jan D; Anagnostopoulos, Ioannis; Doll, Christian; Heiland, Max; Jöhrens, Korinna

2017-01-01

Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ER α ) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Expression of ER α was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

Science.gov (United States)

Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

2018-07-01

Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

The Association study of nonsyndromic cleft lip with or without cleft ...

Indian Academy of Sciences (India)

Navya

2016-11-25

Nov 25, 2016 ... These authors contributed equally to this work. .... individuals without a family history of orofacial clefts or other major congenital defects. ..... Wehby G. L., Cassell C. H. 2010 The impact of orofacial clefts on quality of life and.

Branchial cleft cyst

Directory of Open Access Journals (Sweden)

Vaishali Nahata

2016-01-01

Full Text Available Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

Branchial Cleft Cyst

Science.gov (United States)

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

Branchial Cleft Cyst.

Science.gov (United States)

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

Science.gov (United States)

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Maternal reproductive history and the risk of isolated congenital malformations.

Science.gov (United States)

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Patterns of Cleft Lip and Cleft Palate in Northern Pakistan

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Mansoor Khan

2012-04-01

Results: A total of 159 patients of cleft lip and cleft palate deformities were included in the study, having a mean age of 3.5+6.59 years and containing 59.1% males and 40.9% females with a ratio of 1.4:1. A cleft lip with palate, cleft palate and cleft lip were found in 51.6%, 31.4% and 17% of cases, respectively. Left-sided clefts were most common in the cleft lip with palate and the isolated cleft lip deformity. A cleft lip with palate was a male dominant variety (62.8% of cases, while in the cleft palate variety, the dominant gender was female. In 61.6% of cases, the parent had a consanguineous relationship. In 21.4% of cases, family history was positive for the cleft lip/palate. Other congenital anomalies were associated in 10.7% of cases. Conclusion: Cleft deformities of the lip and palate affect the male population more than females with cleft lips, in association with a cleft palate being the most common anomaly. Females are mainly affected by an isolated cleft palate. The high prevalence of these deformities in consanguineous marriages emphasizes educating people. The lower number of patients from distant distracts of Northern Pakistan calls for the attention of the health department. [Arch Clin Exp Surg 2012; 1(2.000: 63-70

Cranio-facial clefts in pre-hispanic America.

Science.gov (United States)

Marius-Nunez, A L; Wasiak, D T

2015-10-01

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

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

Science.gov (United States)

Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

2015-10-01

Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

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Debangshu Ghosh

2015-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

Midline cervical cleft: a rare congenital anomaly.

Science.gov (United States)

Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

2009-11-01

A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

Newborn screening for classic galactosemia and primary congenital ...

African Journals Online (AJOL)

Objectives. The main objective of this work was to establish the incidence of classic galactosaemia and primary congenital hypothyroidism in newborns in the Nkangala district of Mpumalanga. In the process a cost-effective protocol for neonatal screening of both diseases was developed. Study design and setting.

Management of cleft lip and palate in Nigeria: A survey ...

African Journals Online (AJOL)

Background: Clefts of the lip and/or palate are the most common congenital craniofacial defects and second only to club foot among all congenital anomalies. The management of this condition is resource intensive due to the multidimensional needs. This survey was carried out to ascertain the current state of cleft ...

Rare craniofacial clefts in Ibadan | Iyun | Nigerian Journal of Plastic ...

African Journals Online (AJOL)

Introduction: Congenital craniofacial clefts are anatomical distortions of the face and cranium with deficiencies of excess of tissue in a linear pattern. The exact incidence of craniofacial clefts is unknown because cases are rare and series tend to be small. The aim of this study is to document our experience with congenital ...

Ankyloglossia with cleft lip: A rare case report

Science.gov (United States)

Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

Ankyloglossia with cleft lip: A rare case report

Directory of Open Access Journals (Sweden)

Kritika Jangid

2015-01-01

Full Text Available Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

Branchial Cleft Cyst

OpenAIRE

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which wa...

Evidence-Based Medicine: Cleft Palate.

Science.gov (United States)

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Antenatal determinants of oro-facial clefts in Southern Nigeria | Omo ...

African Journals Online (AJOL)

Objectives: Cleft lip with or without cleft palate, is the most common serious congenital anomaly that affects the orofacial regions. The management and care of the cleft patient constitutes a substantial proportion of the workload of the Nigerian maxillofacial surgeon and allied specialties. Yet, there are no specific ...

Second branchial cleft anomaly with an ectopic tooth: a case report.

Science.gov (United States)

Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

2014-09-01

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

Common dental anomalies in cleft lip and palate patients.

Science.gov (United States)

Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Reconstruction of Nasal Cleft Deformities Using Expanded Forehead Flaps: A Case Series.

Science.gov (United States)

Ramanathan, Manikandhan; Sneha, Pendem; Parameswaran, Ananthnarayanan; Jayakumar, Naveen; Sailer, Hermann F

2014-12-01

Reconstruction of the nasal clefts is a challenging task considering the nasal anatomic complexity and their possible association with craniofacial defects. The reconstruction of these defects needs extensive amounts of soft tissue that warrant the use of forehead flaps. Often presence of cranial defects and low hairline compromise the amount of tissue available for reconstruction warrenting tissue expansion. To evaluate the efficacy of tissue expansion in reconstruction of congenital nasal clefts. 9 patients with congenital nasal clefts involving multiple sub units were taken up for nasal reconstruction with expanded forehead flaps. The average amount of expansion needed was 200 ml. The reconstruction was performed in 3 stages. Expanded forehead flaps proved to be best modality for reconstruction providing the skin cover needed for ala, columella and dorsum with minimal scarring at the donor site. Expansion of the forehead flap is a viable option for multiple sub unit reconstruction in congenital nasal cleft deformities.

Disclosure of congenital cleft lip and palate to Japanese patients: reported patient experiences and relationship to self-esteem

OpenAIRE

Omiya, Tomoko; Ito, Mikiko; Yamazaki, Yoshihiko

2014-01-01

Background The present study investigated when and how Japanese people with cleft lip and palate (CL/P) learn that their condition is congenital; the perceived effects of withholding the CL/P diagnosis on patients; and whether the resulting social experience and self-esteem are related. A questionnaire survey was conducted in 71 adults with CL/P recruited through a hospital, a patients? association, and by snowball sampling. Results The participants became aware of their physical difference i...

Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring

DEFF Research Database (Denmark)

Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager

2012-01-01

Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton...... in northern Denmark, in 1999-2009. Through medical registries, we identified prescriptions for corticosteroids, congenital malformations, and covariates. Furthermore, we summarized the literature on this topic. Overall, 1449 women (1.7%) used inhaled or oral corticosteroids from 30 days before conception...... throughout the first trimester. Oral cleft in the offspring was recorded for 1 of the users (0.08%) and 145 of the nonusers (0.2%), prevalence odds ratio (OR) 0.47 [95% confidence interval (CI), 0.07-3.34]. The prevalence OR for congenital malformations overall was 1.02 (95% CI, 0.79-1.32). According...

Improving Informed Consent for Cleft Palate Repair

Science.gov (United States)

2017-03-07

Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

Science.gov (United States)

Lewis, Charlotte W; Jacob, Lisa S; Lehmann, Christoph U

2017-05-01

Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family. Children with CL/P should receive their specialty cleft-related care from a multidisciplinary cleft or craniofacial team with sufficient patient and surgical volume to promote successful outcomes. The primary care pediatrician at the child's medical home has an essential role in making a timely diagnosis and referral; providing ongoing health care maintenance, anticipatory guidance, and acute care; and functioning as an advocate for the patient and a liaison between the family and the craniofacial/cleft team. This document provides background on CL/P and multidisciplinary team care, information about typical timing and order of cleft-related care, and recommendations for cleft/craniofacial teams and primary care pediatricians in the care of children with CL/P. Copyright © 2017 by the American Academy of Pediatrics.

Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

Science.gov (United States)

Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

2015-09-01

To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

Science.gov (United States)

Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

Transverse facial cleft: A series of 17 cases

Directory of Open Access Journals (Sweden)

L K Makhija

2011-01-01

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

Prevalence of cleft lip and/or palate in children from Lodz between years 1981-2010.

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Antoszewski, Bogusław; Fijałkowska, Marta

2016-03-01

Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981-2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981-2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect. © 2015 Japanese Teratology Society.

Laryngo-tracheo-oesophageal clefts

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Leboulanger Nicolas

2011-12-01

Full Text Available Abstract A laryngo-tracheo-esophageal cleft (LC is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%, mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4, and gastro-esophageal reflux disease (GERD. The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of

Laryngo-tracheo-oesophageal clefts

Science.gov (United States)

2011-01-01

A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and

Classic congenital adrenal hyperplasia and puberty.

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Charmandari, Evangelia; Brook, Charles G D; Hindmarsh, Peter C

2004-11-01

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-hydroxylase deficiency is often suboptimal, and patients are at risk of developing in tandem iatrogenic hypercortisolism and/or hyperandogenism. Limitations of current medical therapy include the inability to control hyperandrogenism without employing supraphysiologic doses of glucocorticoid, hyperresponsiveness of the hypertrophied adrenal glands to adrenocorticotropic hormone (ACTH) and difficulty in suppressing ACTH secretion from the anterior pituitary. Puberty imposes increased difficulty in attaining adrenocortical suppression despite optimal substitution therapy and adherence to medical treatment. Alterations in the endocrine milieu at puberty may influence cortisol pharmacokinetics and, consequently, the handling of hydrocortisone used as replacement therapy. Recent studies have demonstrated a significant increase in cortisol clearance at puberty and a shorter half-life of free cortisol in pubertal females compared with males. Furthermore, children with classic CAH have elevated fasting serum insulin concentrations and insulin resistance. The latter may further enhance adrenal and/or ovarian androgen secretion, decrease the therapeutic efficacy of glucocorticoids and contribute to later development of the metabolic syndrome and its complications.

MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

NARCIS (Netherlands)

Boogaard, M.J.H. van den

2013-01-01

Orofacial clefting and hypodontia are both common congenital disorders with a complex etiology in which genetic and environmental factors might play a role. In the Netherlands, approximately 300 children are born annually with a cleft lip and/or palate. The occurrence of hypodontia is approximately

Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

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Alice V. Pereira, MD

2018-02-01

Conclusions:. The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

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Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

2000-08-31

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer: A Case-Control Study.

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Bui, Anthony H; Ayub, Ayisha; Ahmed, Mairaj K; Taioli, Emanuela; Taub, Peter J

2018-04-01

Cleft lip and/or cleft palate (CL ± P) are among the most common congenital anomalies. Nevertheless, their etiologies remain poorly understood. Several studies have demonstrated increased rates of cancer among patients with CL ± P and their relatives, as well as increased risk of CL ± P among family members of cancer survivors. In addition, a number of possible genetic associations between cancer and CL ± P have been identified. However, these studies are limited by confounding factors that may be prevalent in these patients, such as tobacco exposure and perinatal complications.The purpose of this study was to quantitatively evaluate the association between family history of cancer and development of CL ± P in the child. A case-control study was conducted at the Cleft Hospital and the Bashir Hospital in Gujrat, Pakistan from December 2015 to December 2016. All new cases of CL ± P at the Cleft Hospital were included. Sociodemographically similar patients without congenital malformations at the Bashir Hospital served as controls. Risk factors associated with CL ± P were identified through bivariate analyses. Multiple logistic regressions were performed to calculate adjusted odds ratios of developing CL ± P. There were 137 patients with CL ± P and 147 controls in the study. The following factors were statistically significantly associated with development of cleft: history of cancer in the family (P consanguineous marriage (parents are first or second cousins) (P = 0.03), lower socioeconomic status (P relationship between CL ± P and cancer that has been adjusted for confounders traditionally associated with patients with CL ± P, thereby supporting the evidence of shared environmental and/or genetic etiologies.

Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

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Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

2018-02-19

We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

Denonvilliers' advancement flap in congenital alar rim defects correction

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Novaković Marijan

2009-01-01

Full Text Available Background. Alar rim defects are mostly acquired, resulting from burns, traumas or tumor excision. Sometimes they can accompany craniofacial clefts. However, isolated congenital alar defects are extremely rare. Case report. We presented two cases of congenital isolated alar cleft. The defect was closed by the use of an advancement flap, the technique described by Denonvilliers. We achieved both symmetry and appropriate thickness of the nostrils. Skin color and texture of the alar rim were excellent, with scars not excessively visible. Conclusion. Denonvilliers' z-plasty technique by using advancement flap provides both functionally and aesthetically satisfying outcome in patients with congenital alar rim defects.

PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

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Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

2017-01-01

Cleft lip and palate take significant place in congenital malformations. We aimed to study epidemiological peculiarities of these pathologies in Georgia for 2006-2015. We compared magnitude of its distribution with the data from 1981-1990. Prevalence of cleft lip and palate in Georgia in 2006-2015 was 0.95±0.04 per 1000 live births, while in 1981-1990- it was 1.05, i.e. in contrast to 1980's frequency of these pathological conditions decreased to some extent. Distribution of cleft lip and palate varies across the country regions. The most intensive spread has been observed in Mtskheta-Mtianeti region, where prevalence composed 2.28/1000. In the rest of the regions frequency of these pathologies is significantly lower. For instance, in Kakheti the rate is equal to 1,87/1000, in Kvemo Kartli - 1.56/1000, in Shida Kartli - 1.55/1000. In the rest of the regions prevalence rate is lower than the country average. It should be noted that in Tbilisi the rate is as low as 0.80/1000. The lowest level has been reported in Guria - 0.56/1000. Currently cleft lip with palate is the most frequently occurring anomaly in Georgia accounting for 39.8% of all congenital malformations. Cleft lip alone ranks the second - 36.1%, followed by cleft palate (24.1%). These pathologies are more frequent in boys than in girls. 60.3% of the cases are reported in males, in contrast to girls - 39.7% (pcleft palate is the most common among girls, but in our case, it had higher prevalence among boys, 53.6% vs. 46,4%. Thus cleft lip and palate distribution in Georgia is characterized by epidemiological peculiarities, which should be considered in implementation of preventive measures.

Isolated cleft palate requires different surgical protocols depending on cleft type.

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Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

2017-08-01

A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

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Ozçelik, Derya; Sağlam, Ibrahim; SIlan, Fatma; Sezen, Gülbin; Unveren, Toygar

2008-05-01

We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns "anophthalmia-plus" syndrome or a new syndrome.

Cleft lip and Palate: A 30-year Epidemiologic Study in North-East of Iran

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Hamid Reza Kianifar

2015-01-01

Full Text Available Introduction: Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P among live births in Mashhad, North-Eastern Iran.   Materials and Methods: In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis.   Results: The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP was the most prevalent type of cleft (50%, followed by isolated cleft lip         (35.2% and isolated cleft palate (14.8%. A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3. The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027. There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively. Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05.    Conclusion:  This study indicates a frequency of CL/P close to the findings

MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

OpenAIRE

Boogaard, M.J.H. van den

2013-01-01

Orofacial clefting and hypodontia are both common congenital disorders with a complex etiology in which genetic and environmental factors might play a role. In the Netherlands, approximately 300 children are born annually with a cleft lip and/or palate. The occurrence of hypodontia is approximately 5,5 % in the general population. The general aim of this thesis is to expand the knowledge on the genetic basis of clefting and hypodontia and in this way to improve diagnostics and genetic counsel...

Cause analysis, prevention, and treatment of postoperative restlessness after general anesthesia in children with cleft palate

OpenAIRE

Xu, Hao; Mei, Xiao-Peng; Xu, Li-Xian

2017-01-01

Cleft palate is one of the most common congenital malformations of the oral and maxillofacial region, with an incidence rate of around 0.1%. Early surgical repair is the only method for treatment of a cleft lip and palate. However, because of the use of inhalation anesthesia in children and the physiological characteristics of the cleft palate itself combined with the particularities of cleft palate surgery, the incidence rate of postoperative emergence agitation (EA) in cleft palate surgery ...

Patterns of orofacial clefting in the facial morphology of bats: a possible naturally occurring model of cleft palate.

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Orr, David J A; Teeling, Emma C; Puechmaille, Sébastien J; Finarelli, John A

2016-11-01

A normal feature of the facial anatomy of many species of bat is the presence of bony discontinuities or clefts, which bear a remarkable similarity to orofacial clefts that occur in humans as a congenital pathology. These clefts occur in two forms: a midline cleft between the two premaxillae (analogous to the rare midline craniofacial clefts in humans) and bilateral paramedian clefts between the premaxilla and the maxillae (analogous to the typical cleft lip and palate in humans). Here, we describe the distribution of orofacial clefting across major bat clades, exploring the relationship of the different patterns of clefting to feeding mode, development of the vomeronasal organ, development of the nasolacrimal duct and mode of emission of the echolocation call in different bat groups. We also present the results of detailed radiographic and soft tissue dissections of representative examples of the two types of cleft. The midline cleft has arisen independently multiple times in bat phylogeny, whereas the paramedian cleft has arisen once and is a synapomorphy uniting the Rhinolophidae and Hipposideridae. In all cases examined, the bony cleft is filled in by a robust fibrous membrane, continuous with the periosteum of the margins of the cleft. In the paramedian clefts, this membrane splits to enclose the premaxilla but forms a loose fold laterally between the premaxilla and maxilla, allowing the premaxilla and nose-leaf to pivot dorsoventrally in the sagittal plane under the action of facial muscles attached to the nasal cartilages. It is possible that this is a specific adaptation for echolocation and/or aerial insectivory. Given the shared embryological location of orofacial clefts in bats and humans, it is likely that aspects of the developmental control networks that produce cleft lip and palate in humans may also be implicated in the formation of these clefts as a normal feature in some bats. A better understanding of craniofacial development in bats with and

A case of adult congenital laryngeal cleft asymptomatic until hypopharynx cancer treatment.

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Shimizu, Kotaro; Uno, Atsuhiko; Takemura, Kazuya; Ashida, Naoki; Oya, Ryohei; Kitamura, Takahiro; Takenaka, Yukinori; Yamamoto, Yoshifumi

2018-06-01

Laryngeal cleft is an anomaly of failed posterior closure of the larynx. Most cases are diagnosed and need treatment early in life due to respiratory and swallowing problems. We report an unusual case of a 66-year-old man with an asymptomatic laryngeal cleft until treatment for hypopharyngeal cancer. During concurrent chemoradiotherapy (CCRT), despite reduced tumor volume, he presented severe dysphagia and dyspnea, followed by severe pneumonia twice. Because CCRT had to be discontinued, a pharyngolaryngectomy was performed for the cancer treatment. The resected specimen showed total removal of the tumor and a total longitudinal cleft of the cricoid cartilage, classified as a type III laryngeal cleft by the Benjamin and Inglis' classification. A review of computed tomography images indicated that the redundant mucosa from bilateral edges closed the separation of the posterior cricoid cartilage and narrowed the laryngeal airway during CCRT. Adult presentations of laryngeal cleft are quite rare with only ten reported cases in English literature; the present case is of the oldest patient. Undiagnosed cases with laryngeal cleft may exist asymptomatically or without severe symptoms. The awareness of this condition may increase its diagnosis as a cause of diseases such as aspiration and recurrent pneumonia even in adult patients. Copyright © 2017 Elsevier B.V. All rights reserved.

Disclosure of congenital cleft lip and palate to Japanese patients: reported patient experiences and relationship to self-esteem.

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Omiya, Tomoko; Ito, Mikiko; Yamazaki, Yoshihiko

2014-12-16

The present study investigated when and how Japanese people with cleft lip and palate (CL/P) learn that their condition is congenital; the perceived effects of withholding the CL/P diagnosis on patients; and whether the resulting social experience and self-esteem are related. A questionnaire survey was conducted in 71 adults with CL/P recruited through a hospital, a patients' association, and by snowball sampling. The participants became aware of their physical difference in childhood, but many reported difficulty in understanding their condition. Participants reported that their families avoided the topic of diagnosis. Participants who understood their condition during childhood rather than in adulthood were significantly more likely to consider this scenario as positive (p self-esteem were more likely to feel that they received adequate support. It is important to explain the congenital nature of CL/P sufficiently and early. In addition, openness by the family about the diagnosis, rather than avoidance, may improve patients' self-esteem. Sufficient support from family, health care providers, and significant others is needed for patients to develop adequate self-esteem.

Management of an infant with cleft lip and palate with phocomelia in dental practice.

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Muthu, M S

2000-12-01

Cleft lip and palate is a severe birth defect occurring approximately one in 800-1000 newborn infants. The incidence varies widely among races. Cleft lip and palate together account for approximately 50% of all cases whereas isolated cleft lip and isolated cleft palate occur in about 25% of cases. Many of these congenital anomalies appear to be genetically determined though the majority are of unknown causes or teratogenic influences. Presented here is a 3 day old infant with bilateral cleft lip and palate and phocomelia for whom a feeding obturator was made and delivered to facilitate feeding.

Does the visibility of a congenital anomaly affect maternal-infant attachment levels?

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Boztepe, Handan; Ay, Ayşe; Kerimoğlu Yıldız, Gizem; Çınar, Sevil

2016-10-01

To determine whether congenital anomaly visibility affects maternal-infant attachment levels. The study population consisted of mothers who had infants with cleft lip/palate or congenital heart anomalies who were receiving treatment in a university hospital. The data were collected using the Structured Questionnaire Form and the Maternal Attachment Inventory. Statistically significant differences in maternal-infant attachment levels were observed between infants with cleft lips/palates and healthy infants and between infants with congenital heart anomalies and healthy infants. It is important to apply appropriate nursing interventions for these mothers during the postpartum period. © 2016, Wiley Periodicals, Inc.

Congenital cutaneous fistula at the sternoclavicular joint - Not a dermoid fistula but the remnant of the fourth branchial (pharyngeal) cleft ?

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Ohno, Michinobu; Kanamori, Yutaka; Tomonaga, Kotaro; Yamashita, Tatsuya; Migita, Misato; Takezoe, Toshiko; Watanabe, Toshihiko; Fuchimoto, Yasushi; Matsuoka, Kentaro

2015-12-01

A fourth branchial pouch remnant is well known as a pyriform sinus fistula. However, there has been no report of a fistula composed of the complete remnant of the fourth branchial apparatus. We experienced patients with a congenital lower neck cutaneous fistula which was thought to be the skin-side remnant of the fourth branchial cleft. Seven children were referred to our hospital from 2009 to 2015 for the treatment of a cutaneous fistula situated near the sternoclavicular joint. All of them were surgically resected and their pathological characteristics were examined. Clinical charts were retrospectively reviewed. In six cases, the left side was affected. All cutaneous fistulas had a small skin orifice near the sternoclavicular joint and they were situated at the anterior edge of the sternocleidomastoid muscle. Abscess formation was seen in four cases. Surgical resection was performed at the age of 6 months to 9 years. These fistulas ran deep into the subcutaneous tissue and had a blind end. Pathological examination showed that the epithelial layer was mainly composed of a stratified squamous epithelium. In two cases the epithelium was composed of ciliated columnar epithelium. Recurrence has not been observed in any of the cases. The seven cases had a common clinical feature and were a definite clinical entity. Judging from the characteristics of our cases and the previous literature, we concluded that this lower neck cutaneous fistula was most likely a congenital skin-side remnant of the fourth branchial cleft. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Speech characteristics after palatal closure in subjects with isolated clefts: an exploration in Uganda

NARCIS (Netherlands)

Anke Luyten

2014-01-01

Cleft lip and/or palate (CL/P) is a congenital craniofacial defect that arises on average in 1.7 per 1000 live births. This anomaly causes atypical facial appearance, hearing problems, malocclusions and speech disorders. Outcomes in terms of speech are influenced by timing of surgical cleft closure.

Reconstruction of Drug-induced Cleft Palate Using Bone Marrow Mesenchymal Stem Cell in Rodents.

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Amalraj, Julie Christy; Gangothri, Manasa; Babu, Hari

2017-01-01

Triamcinolone acetonide (TAC) (Kenacort*) is a commonly used synthetic glucocorticoid in today's medical practice. The drug is also a potential agent in inducing cleft palates in rats. This drug has been used to induce cleft palate in the fetus of the pregnant rats to bring out a suitable animal model for human cleft lip and palate. The drug was given intraperitoneally to induce congenital cleft palate in pregnant mother rats. The aim of this study is to induce congenital cleft palate in pregnant Wister albino rats and reconstruct the defect with bone marrow mesenchymal stem cells (BMSCs) isolated from the same species along with PLGA (poly lactic co glycolic acid) scaffold. Twenty female animals were divided into two groups. Each group contains 10 animals. The animals were allowed to mate with male rat during the esterase period and the day, in hich vaginal plug was noticed was taken to be day 0. The pregnant rats were given triamcinolone acetonide (Kenacort* 10 mg/1 ml intramuscularly/intravenous [IM/IV] injections) injection intraperitoneally at two different dosages as the existing literature. The injection was given on the 10, 12, and 14 th day of gestation. The clinical changes observed were recorded, and the change in the body weight was noted carefully. Group 1 which received 0.5 mg/kg body weight of TAC had many drug toxic effects. Group 2 which received 0.05 mg/kg body weight produced cleft palate in rat pups. The pups were divided into three groups. Group A control group without cell transplant, the cleft was allowed to close by itself. Group B containing palate reconstructed with plain PLGA scaffold (Bioscaffold, Singapore) without BMSC, Group C containing BMSC and PLGA scaffold (Bioscaffold, Singapore), Group C operated for the cleft palate reconstruction using BMSCs and PLGA scaffold. There was faster and efficient reconstruction of bone in the cleft defect in Group C while there was no defect closure in Group A and B. There was complete

Rare localization of a branchial cleft cyst in a child - case report

International Nuclear Information System (INIS)

Chodorowska, A.; Haran, T.

2006-01-01

Branchial cleft cysts are the most common neck masses in children. USG and MRI allow precise diagnosis and preoperative assessment of these changes. A 20-month-old girl was admitted to the hospital with a palpable mass in the submandibular region. In the USG and MRI examinations, a cystic mass was found. The cyst was removed. Histopathological examination revealed the presence of an endodermal cleft cyst. The main cause of neck tumors in children are congenital changes. The most common are branchial cleft cysts and thyreoglossal cysts. Branchial cleft cysts arise during the first six weeks of fetal life when the branchial arches are developing. Among them the most common are second branchial cleft cysts, which occur in the neck, anterior to the sternocleidomastoid. (author)

An unusual presentation of presentation of a branchial cleft cyst.

Science.gov (United States)

Vemula, Rahul; Greco, Gregory

2012-05-01

Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

First branchial cleft sinus presenting with cholesteatoma and external auditory canal atresia.

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Yalçin, Sinasi; Karlidağ, Turgut; Kaygusuz, Irfan; Demirbağ, Erhan

2003-07-01

First branchial cleft abnormalities are rare. They may involve the external auditory canal and middle ear. We describe a 6-year-old girl with congenital external auditory canal atresia, microtia, and cholesteatoma of mastoid and middle ear in addition to the first branchial cleft abnormalities. Clinical features of the patient are briefly described and the embryological relationship between first branchial cleft anomaly and external auditory canal atresia is discussed. The surgical management of these lesions may be performed, both the complete excision of the sinus and reconstructive otologic surgery.

Nasal Glial Heterotopia with Cleft Palate.

Science.gov (United States)

Chandna, Sudhir; Mehta, Milind A; Kulkarni, Abhishek Kishore

2018-01-01

Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment.

Science.gov (United States)

Mulder, F J; Mosmuller, D G M; de Vet, H C W; Mouës, C M; Breugem, C C; van der Molen, A B Mink; Don Griot, J P W

2018-01-01

Objective To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting VU University Medical Center, Amsterdam. Patients Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose ( P = 0.22) and lip ( P = 0.72). Conclusions The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients.

Cleft Lip and Cleft Palate

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... health conditions > Cleft lip and cleft palate Cleft lip and cleft palate E-mail to a friend Please fill in ... repair cleft lip and palate. What are cleft lip and cleft palate? Cleft lip is a birth defect in which ...

Cleft lip and palate review: Epidemiology, risk factors, quality of life, and importance of classifications

Directory of Open Access Journals (Sweden)

Laureen Supit

2008-12-01

Full Text Available Cleft lip with or without cleft palate is the most occurring craniofacial anomaly in human, resulting from a complex etiology involving multiple genetic and environmental factors. The defect carries lifelong morbidity and economic burden. Children with clefts will require continuous medical interventions for at least the first 18 years of life, affecting many aspects of their lives. The extent and complexity of clefts vary infinitely, later determining individual management and outcome. Identification and classification play significant roles in initial assessment of these unique cleft cases, which affect options for following correctional attempts. Some classifications even allow measurement of progress after anatomical repositioning, and success rate after surgical repairs. The challenge of developing one such widely inclusive classification is discussed. (Med J Indones 2008; 17: 226-39Keywords: Cleft lip, cleft palate, congenital anomaly, cleft  classfications

Nasal glial heterotopia with cleft palate

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Sudhir Chandna

2018-01-01

Full Text Available Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

Management of Cleft Lip and Palate in Nigeria: A Survey

African Journals Online (AJOL)

2017-03-20

Mar 20, 2017 ... Background: Clefts of the lip and/or palate are the most common congenital craniofacial ... in the number of surgeons, but the training, scope, and standard of care remain ... specialist fellowship qualifications, 6 others (8.6%).

Cleft lip and palate: series of unusual clinical cases.

Science.gov (United States)

Paranaíba, Lívia Máris Ribeiro; Miranda, Roseli Teixeira de; Martelli, Daniella Reis Barbosa; Bonan, Paulo Rogério Ferreti; Almeida, Hudson de; Orsi Júnior, Julian Miranda; Martelli Júnior, Hercílio

2010-01-01

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region. to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

Pre-operative evaluation of cleft palate using three dimensional computerized tomography (s-D CT)

International Nuclear Information System (INIS)

Azia, A.; Hashmi, R.

1999-01-01

Cleft palate is a congenital anomaly with major development concerns. Surgery with bone grafting is often required to correct the lesion. With the introduction of 3-D CT the evaluation of cleft pa late has become more accurate. We present two cases of cleft palate, which were operated upon with bone grafting. We employed 3-D CT techniques in addition to the conventional 2-D CT, 3-D CT improves the estimation of the required bone graft and signification reduces length of surgery and complications. (author)

Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Science.gov (United States)

Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

2013-03-01

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Orthognathic Consequences of Sphincter Pharyngoplasty in Cleft Patients: A 2-Institutional Study

Science.gov (United States)

Yoshikane, Frances; Lai, Li Han; Hui, Brian K.; Martins, Deborah B.; Farias-Eisner, Gina; Mandelbaum, Rachel S.; Hoang, Han; Bradley, James P.; Wilson, Libby

2016-01-01

Background: Understanding long-term sequelae of cleft treatment is paramount in the refinement of treatment algorithms to accomplish optimized immediate and long-term outcomes. In this study, we reviewed sphincter pharyngoplasties as a method of velopharyngeal insufficiency (VPI) treatment in relationship to orthognathic surgery. Methods: Cleft lip/palate and cleft palate patients, 15 years of age and older, were reviewed for demographics, VPI surgery, revisions, and subsequent orthognathic surgery at 2 institutions. Chi-square test, Student’s t test, and logistic regression analyses were performed. Results: In 214 patients reviewed (mean age, 19.5 years), 61.7% were male, 18.2% had isolated cleft palate, 61.2% had unilateral cleft lip and palate, and 20.6% had bilateral cleft lip and palate. A total of 33.6% were diagnosed with VPI and received a sphincter pharyngoplasty (mean age, 11.9 years). When subsequent orthognathic surgery was examined, sphincter pharyngoplasty was not associated with maxillary advancement (P = 0.59) but did correlate with an increase in mandibular surgery from 2.8% to 11.1% (P = 0.02). The indications for mandibular surgery in the pharyngoplasty population were related to congenital micrognathia. When cephalometric analyses were evaluated, sphincter pharyngoplasty resulted in a decreased sella-to-nasion-to-B point angle (mean, 79.0–76.3 degrees, P = 0.02) and a higher incidence of normal to class II maxillomandibular relationships as defined by A point-to-nasion-to-B point angles >0.5 (P = 0.02). Conclusions: Sphincter pharyngoplasty decreases anterior mandibular growth and the discrepancy between maxillomandibular skeletal relationships because of the frequent predisposition of cleft patients to maxillary hypoplasia. In patients with congenital mandibular micrognathia, a small increase in mandibular surgeries may occur. PMID:27200238

The Prevalence of Cleft Lip and Cleft Palate and Related Risk Factors among Iranian Children from 2000 to 2016: a Literature Review

Directory of Open Access Journals (Sweden)

Arman Jafari

2017-04-01

Full Text Available BackgroundCleft lip and cleft palate (also, known as or facial clefts, are amongst the most common congenital deformities affecting the jaw and face as well as the most common defects associated with lip and palate. Thus, the current study was an attempt to investigate the prevalence and risk factors of or facial clefts in Iranian children.Materials and Methods:The present study, was conducted through a systematic search for articles recorded in the internal database (SID, IranMedex and Magiran, and external authoritative databases (Google scholar, PubMed, Science Direct, MEDLINE, CINAHL and EMBASE using the keywords including "cleft lip", "Iranian", "cleft palate", and "children" from 2000 to 2016. Then, 61 articles were collected. 47 studies with associated incidence or prevalence of cleft lip and cleft palate were included.Results:According to the findings of the review of the studies conducted in Iran, it is revealed that the prevalence of cleft lip and cleft palate was from 0.78 to 2.14 in Iranian children. It was revealed that several factors contributing to the development of this disorder consist of Family history ( P< 0.001, Antibiotics, ( P< 0.001, Stress in the first trimester of pregnancy (P=0.048, BMI before pregnancy (P=0.036 Seasonal factors (P= 0.03, and Consanguineous marriage (P=0.02.ConclusionAccording to the results of the present study, the prevalence of cleft lip and cleft palate is high in Iran in comparison with international studies. Furthermore, the prevalence of this disorder is reported to be higher in males than females. Therefore, it is recommended arrange the practical programs in order to help parents eliminate or diminish the factors that affect the prevalence of this disorder and complications.

Cleft Palate Repair Using a Double Opposing Z-Plasty.

Science.gov (United States)

Moores, Craig; Shah, Ajul; Steinbacher, Derek M

2016-07-01

Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function.

Morphological evaluation of clefts of the lip, palate, or both in dogs.

Science.gov (United States)

Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

2017-08-01

OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

2018-01-22

Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

Hypothalamo-pituitary hormone insufficiency associated with cleft lip and palate.

Science.gov (United States)

Roitman, A; Laron, Z

1978-01-01

Two male patients with congenital cleft lip and palate first seen at ages 10.2 and 21.5 years presented with typical signs of hypothalamic-interior pituitary hormone deficiencies. They were found to lack GH, LH, and FSH and to be partially deficient in TSH and ACTH. Several congenital defects may explain this rare syndrome affecting midline structures in the proximity of the maldeveloped palate, including Rathke's pouch, which migrates distally to develop into the anterior pituitary. PMID:747400

Long-term effects of oral clefts on health care utilization

DEFF Research Database (Denmark)

Pedersen, Morten Saaby; Wehby, George L; Pedersen, Dorthe Almind

2015-01-01

clefts use more health services than their unaffected siblings. Additional results show that the effects are driven primarily by congenital malformation-related hospitalizations and intake of anti-infectives. Although the absolute differences in most health care utilization diminish over time, affected......Oral clefts are among the most common birth defects affecting thousands of newborns each year, but little is known about their potential long-term consequences. In this paper, we explore the impact of oral clefts on health care utilization over most of the lifespan. To account for time...... individuals have slightly higher utilization of some health care services in adulthood (particularly for diseases of the nervous and respiratory system). These results have important implications for affected individuals, their families, and their health professionals....

EEC syndrome sans clefting: Variable clinical presentations in a family

Directory of Open Access Journals (Sweden)

Thakkar Sejal

2007-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

[Interdisciplinary orthodontic surgical treatment of children with cleft lip and palate from 9 to 20 years of age

NARCIS (Netherlands)

Kuijpers-Jagtman, A.M.; Molen, A.B. van der; Bierenbroodspot, F.; Borstlap, W.A.

2015-01-01

Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

Science.gov (United States)

Cohen, J; Schanen, N C

2000-01-01

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

#Cleft: The use of Social Media Amongst Parents of Infants with Clefts.

Science.gov (United States)

Khouri, Joseph S; McCheyne, Melisande J; Morrison, Clinton S

2018-01-01

Introduction Many societies and organizations are using social media to reach their target audience. The extent to which parents of patients with craniofacial anomalies use social media has yet to be determined. The goal of this study is to characterize and describe the use of social media by the parents of children with cleft lip and palate as it pertains to the care of their child. Materials and Methods Parents or guardian of all patients presenting for initial consultation regarding a child's congenital cleft anomaly were contacted by phone or mail to complete a survey regarding their use of social media vis-à-vis their child's cleft anomaly. Participants were asked to answer a 19-question survey. Results Thirty-two families were contacted and 25 surveys were completed. Ninety-two percent of respondents used social media to learn about their child's diagnosis. Facebook (76%) and blogs (24%) were the most commonly accessed social media outlets, followed by Instagram (8%). Education about the diagnosis and treatment of cleft pathology (87%) was the most common reason for accessing social media, followed by companionship and support (56%), and advice about perioperative care (52%). Almost half (43%) of parents used social media to obtain information on their caregiver and treatment team, and 26% of parents used information gained on social media to guide their decision on where to seek care. Conclusion Social media is a readily available resource, one that will certainly shape the experiences of our patients and families for years to come.

Cleft lip and palate malformations: essential knowledge for the ...

African Journals Online (AJOL)

Cleft lip and palate malformations are a common group of congenital abnormalities, and are therefore frequently encountered by the general practitioner, who is often the primary coordinator in the management of these patients. This is especially true in a South African setting, where specialist treatment is not always readily ...

Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015.

Science.gov (United States)

Sarmiento, K; Valencia, S; Gracia, G; Hurtado-Villa, P; Zarante, I

2018-04-01

Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.

Long term follow up study of survival associated with cleft lip and palate at birth

DEFF Research Database (Denmark)

Christensen, Kaare; Juel, K.; Herskind, Anne Maria

2004-01-01

OBJECTIVE: To assess the overall and cause specific mortality of people from birth to 55 years with cleft lip and palate. DESIGN: Long term follow up study. SETTING: Danish register of deaths. PARTICIPANTS: People born with cleft lip and palate between 1943 and 1987, followed to 1998. MAIN OUTCOME...... MEASURES: Observed and expected numbers of deaths, summarised as overall and cause specific standardised mortality ratios. RESULTS: 5331 people with cleft lip and palate were followed for 170 421 person years. The expected number of deaths was 259, but 402 occurred, corresponding to a standardised...... of death. CONCLUSIONS: People with cleft lip and palate have increased mortality up to age 55. Children born with cleft lip and palate and possibly other congenital malformations may benefit from specific preventive health measures into and throughout adulthood....

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub?Saharan Africa

OpenAIRE

Gowans, Lord Jephthah Joojo; Busch, Tamara D.; Mossey, Peter A.; Eshete, Mekonen A.; Adeyemo, Wasiu L.; Aregbesola, Babatunde; Donkor, Peter; Arthur, Fareed K. N.; Agbenorku, Pius; Olutayo, James; Twumasi, Peter; Braimah, Rahman; Oti, Alexander A.; Plange?Rhule, Gyikua; Obiri?Yeboah, Solomon

2017-01-01

Abstract Background Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 ( IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts from Africa. Methods We carried out Sanger Sequencing on DNA from 184 patients with nonsynd...

Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

Science.gov (United States)

Smarius, Bram; Loozen, Charlotte; Manten, Wendy; Bekker, Mireille; Pistorius, Lou; Breugem, Corstiaan

2017-01-01

Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams. PMID:29026689

Novel presentation of a fourth branchial cleft anomaly in a male infant.

Science.gov (United States)

Evans, Seth H; Marinello, Mark; Dodson, Kelley M

2010-01-01

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Maternal Risk Factors for Oral Clefts: A Case-Control Study

Directory of Open Access Journals (Sweden)

Elham Mobasheri

2011-01-01

Full Text Available Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran.  Materials and Methods: This hospital-based case-control study was performed in three hospitals in Gorgan, Northern Iran between April 2006 and December 2009. The case group contained 33 newborns with oral clefts and the control group contained 63 healthy newborns. Clinical and demographic factors, including date of birth, gender of the newborns, type of oral cleft, consanguinity of the parents, parental ethnicity, and the mother's parity, age, education and intake of folic acid were recorded for analysis.  Results: A significant association was found between parity higher than 2 and the risk of an oral cleft (OR= 3.33, CI 95% [1.20, 9.19], P> 0.02. According to ethnicity, the odds ratio for oral clefts was 0.87 in Turkmens compared with Sistani people (CI 95% [0.25, 2.96] and 1.11 in native Fars people compared with Sistani people (CI 95% [0.38, 3.20]. A lack of folic acid consumption was associated with an increased risk of oral clefts but this was not statistically significant (OR = 1.42, CI 95% [0.58, 3.49]. There were no significant associations between sex (OR boy/girl = 0.96, CI 95% [0.41, 2.23], parent familial relations (OR = 1.07, CI 95% [0.43, 2.63], mother's age and oral clefts.  Conclusions:  The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly.

Tessier 3 Cleft in a Pre-Hispanic Anthropomorphic Figurine in El Salvador, Central America.

Science.gov (United States)

Aleman, Ramon Manuel; Martinez, Maria Guadalupe

2017-03-01

In 1976, Paul Tessier provided a numerical classification system for rare facial clefts, numbered from 0 to 14. The Tessier 3 cleft is a rare facial cleft extending from the philtrum of the upper lip through the wing of the nostril, and reaches the medial canthus of the eye. The aim of this document was to describe a pre-Hispanic anthropomorphic figurine dating from the classic period (200 A.D.-900 A.D.), which has a Tessier 3 cleft. We also discuss the documented pre-Hispanic beliefs about facial clefts.

A Type I first branchial cleft cyst masquerading as a parotid tumor.

Science.gov (United States)

Krishnamurthy, Arvind; Ramshanker, Vijayalakshmi

2014-01-01

Branchial cleft anomalies are caused by incomplete regression of the cervical sinus of "His" during the 6(th) and 7(th) weeks of embryologic development. Although congenital in origin, first branchial cleft cysts (FBCCs) can present later in life. FBCCs are rare causes of parotid swellings, accounting for branchial cleft abnormalities. The diagnosis of FBCCs is a clinical challenge; the condition is often overlooked and mismanaged. We report a case of Type 1 FBCC in a 22-year-old female with an asymptomatic 3.5 cm × 2.5 cm sized cystic mass. It was removed completely under the impression of a cystic tumor of the parotid. On histopathology, the cyst had a squamous epithelium-lined wall with lymphoid aggregation which was characteristic of a branchial cleft cyst. A good understanding of the regional anatomy and embryology can lead to an early diagnosis and thereby effective management of FBCC.

Cleft Lip and Palate: An Experience of a Developing Center in Egypt.

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Abulezz, Tarek A

2017-11-01

Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population. In this study, the problem of cleft lip and palate in the area of upper Egypt was presented through the records of patients admitted to the Department of Plastic Surgery at the Sohag University Hospital in a 15-year period (2001-2015). A total number of 1318 patients, who were admitted and had been operated upon in our department, were included in this study. The majority of patients presented to the department with a primary disease, yet 14.7% (194 patients) of them were first presented for a secondary interference after being operated upon elsewhere. A total number of 1923 surgical procedures were performed.

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.

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Gowans, Lord Jephthah Joojo; Oseni, Ganiyu; Mossey, Peter A; Adeyemo, Wasiu Lanre; Eshete, Mekonen A; Busch, Tamara D; Donkor, Peter; Obiri-Yeboah, Solomon; Plange-Rhule, Gyikua; Oti, Alexander A; Owais, Arwa; Olaitan, Peter B; Aregbesola, Babatunde S; Oginni, Fadekemi O; Bello, Seidu A; Audu, Rosemary; Onwuamah, Chika; Agbenorku, Pius; Ogunlewe, Mobolanle O; Abdur-Rahman, Lukman O; Marazita, Mary L; Adeyemo, A A; Murray, Jeffrey C; Butali, Azeez

2018-05-01

Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P.

Management of Commonly Encountered Secondary Cleft Deformities of Face-A Case Series

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Jacob John

2017-10-01

Full Text Available Orofacial clefts are one of the commonest congenital deformities occurring due to disturbances during the embryological formation, development and growth of orofacial region. The treatment of cleft deformities in the early period of life is mandatory to address the aesthetic, functional and psychological problems affecting the child. A considerable number of surgical modalities for definitive correction of unilateral and bilateral cleft lip, nose, and eyelid deformities have been reported over the past half century. After the initial cleft repair, there is a long period of dramatic growth. This powerful variable of growth may ultimately distort the immediate surgical result. Hence, the correction of secondary deformities plays a very important part in the care of these patients. In this article we are enlisting some simple techniques to correct the commonly encountered secondary cleft deformities of face that gave acceptable results to the patients. These corrective surgeries not only improved the function and aesthetics but also increased the confidence level, satisfaction and overall quality of life of the patient.

Six years analysis of cleft palate in a university hospital center

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Farahvash M

1999-08-01

Full Text Available Cleft palate is a congenital condition that occurs with the incidence rate of one out of 2000 births. This anomaly produces intraoral pressure changes (increase or decrease, can cause speech, sucking and feeding problems of involved patient. On the other hand, if cleft palate is associated with cleft of the lip or alveolar area, growth and alignment of teeth may change the appearance of the patient and affect the psychologic and occupational future of the patient. Eustatian tube malfunction in involved neonates increase. Many procedures are used to repair the cleft palate and correction of palatal muscles which are: 1 Von Langenbeck (18.5%. 2 Veau-Wardil-Kilner (72.5%. 3 Double opposing Z-Plasty (9%. In this research the demographic criteria of patients including age of the patient at operation rime (mean age 30.14 months, city of residence, family history of cleft palate (12.4%, familial relation of parents (15.2%, associated anomalies, complete or incomplete lesion, weight of patients at the time of surgery (mean 11.28 Kg, hemoglobin (11.3 mg/dl, complications, otitis media and the side of cleft palate are studied in 178 admitted patients to Imam General Hospital between 1989 and 1995.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

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Sharma, Gaurav; Nagpal, Archna

2017-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

Facts about Cleft Lip and Cleft Palate

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... Information For… Media Policy Makers Facts about Cleft Lip and Cleft Palate Language: English (US) Español (Spanish) Recommend on Facebook ... can make referrals to cleft/craniofacial treatment teams. Cleft Lip & Palate Foundation of Smiles Cleft Lip & Palate Foundation of ...

A Type I first branchial cleft cyst masquerading as a parotid tumor

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Krishnamurthy, Arvind; Ramshanker, Vijayalakshmi

2014-01-01

Branchial cleft anomalies are caused by incomplete regression of the cervical sinus of “His” during the 6th and 7th weeks of embryologic development. Although congenital in origin, first branchial cleft cysts (FBCCs) can present later in life. FBCCs are rare causes of parotid swellings, accounting for branchial cleft abnormalities. The diagnosis of FBCCs is a clinical challenge; the condition is often overlooked and mismanaged. We report a case of Type 1 FBCC in a 22-year-old female with an asymptomatic 3.5 cm × 2.5 cm sized cystic mass. It was removed completely under the impression of a cystic tumor of the parotid. On histopathology, the cyst had a squamous epithelium-lined wall with lymphoid aggregation which was characteristic of a branchial cleft cyst. A good understanding of the regional anatomy and embryology can lead to an early diagnosis and thereby effective management of FBCC. PMID:25298726

Population-based study of birth prevalence and factors associated with cleft lip and/or palate in Taiwan 2002-2009.

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Ruoh-Lih Lei

Full Text Available BACKGROUND: Facial cleft deformities, including cleft lip with or without cleft palate (CL/P and cleft palate (CP, are common congenital birth anomalies, especially in Asia. This study aimed to analyze the prevalence of CL/P and CP and to identify associated factors in Taiwan. METHODS: This population-based epidemiological study retrospectively analyzed birth data obtained from the Department of Health in Taiwan for years 2002-2009. Frequency distribution, percentages and related predictors were investigated, and findings were presented by types of cleft deformities. Logistic regression analysis was performed to identify factors associated with cleft deformities. RESULTS: Overall prevalence of cleft deformities among 1,705,192 births was 0.1% for CL/P and 0.04% for CP over the 8-year study period. Higher prevalence of CL/P or CP was observed with multiple pregnancies, being male for CL/P, being female for CP, gestational age ≤37 weeks and lower birth weight (<1.5 kg. Both CL/P and CP were significantly associated with gestational age <37 weeks and birth weight<1.5 kg (all P <0.0001. CL/P was significantly associated with multiple parities (P = 0.0004-0.002. Male newborns and female newborns were significantly associated with CL/P and CP, respectively (both P<0.0001. CONCLUSIONS: Overall prevalence for congenital cleft deformities in study subjects was 0.1%, in keeping with high rates in Asia. Results suggest the need for awareness and early identification of those at high risk for cleft deformities, including newborns with gestational age <37 weeks, weighing <1.5 kg at birth and women with multiple parities, as a potential strategy to counter long-term adverse effects on speech and language in this population.

Cause analysis, prevention, and treatment of postoperative restlessness after general anesthesia in children with cleft palate.

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Xu, Hao; Mei, Xiao-Peng; Xu, Li-Xian

2017-03-01

Cleft palate is one of the most common congenital malformations of the oral and maxillofacial region, with an incidence rate of around 0.1%. Early surgical repair is the only method for treatment of a cleft lip and palate. However, because of the use of inhalation anesthesia in children and the physiological characteristics of the cleft palate itself combined with the particularities of cleft palate surgery, the incidence rate of postoperative emergence agitation (EA) in cleft palate surgery is significantly higher than in other types of interventions. The exact mechanism of EA is still unclear. Although restlessness after general anesthesia in children with cleft palate is self-limiting, its effects should be considered by clinicians. In this paper, the related literature on restlessness after surgery involving general anesthesia in recent years is summarized. This paper focuses on induction factors as well as prevention and treatment of postoperative restlessness in children with cleft palate after general anesthesia. The corresponding countermeasures to guide clinical practice are also presented in this paper.

[Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

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Huang, Y Q

2017-04-09

Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review.

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Sreejith, V P; Arun, V; Devarajan, Anooj P; Gopinath, Arjun; Sunil, Madhuri

2018-01-01

Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment. To analyze the psychological effects of prenatal diagnosis of CLP on the parents. PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study. Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents. Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.

Cleft lip and palate in northern Nigerian children | Adeola | Annals of ...

African Journals Online (AJOL)

Background: Cleft lip and palate are congenital abnormalities often seen and managed early in life in the developed world. The current approach to management is a multidisciplinary one. In this part of the world however, patients present at a later age and are managed by a single specialist. Methods: A retrospective review ...

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.

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Spinelli, C; Rossi, L; Strambi, S; Piscioneri, J; Natale, G; Bertocchini, A; Messineo, A

2016-05-01

Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

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Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

2014-01-01

Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate.

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Martelli, Daniella Reis Barbosa; Cruz, Kaliany Wanessa da; Barros, Letízia Monteiro de; Silveira, Marise Fernandes; Swerts, Mário Sérgio Oliveira; Martelli Júnior, Hercílio

2010-01-01

Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis. among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%). although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.

Congenital anomalies in black South African liveborn neonates at ...

African Journals Online (AJOL)

hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

Adolescent and adult cleft lip and palate, in Ile-Ife, Nigeria | Oladele ...

African Journals Online (AJOL)

Introduction: Congenital cleft lip and palate (CLP) defects usually present in childhood, especially in places with available and affordable care. In Nigeria, their incidence is low but late presentation in Adult life have been reported. This article aims at reviewing adolescent and adult CLP patients in our center, with the advent ...

Association between maternal smoking, gender, and cleft lip and palate

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Daniella Reis Barbosa Martelli

2015-10-01

Full Text Available ABSTRACT INTRODUCTION: Cleft lip and/or palate (CL/P represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843 and Controls: mothers of children without CL/P (n = 676. All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. RESULTS: An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR = 3.51; 95% CI 2.83-4.37. By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. CONCLUSION: Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential.

Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

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Wirtz, Nicholas; Sidman, James; Block, William

2016-05-01

Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Imaging of congenital anomalies of the temporal bone.

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Benton, C; Bellet, P S

2000-02-01

This article briefly presents the embryology of the ear and discusses the external auditory canal and middle ear, including first branchial cleft anomalies, external auditory canal atresia and stenoses, congenital cholesteatoma, and congenital teratoma. Topics related to the labyrinths include aplasia, the common-chamber anomaly, the pseudo-Mondini and Mondini malformations, semicircular canal dysplasia, and the large vestibular aqueduct. Vascular malformations and variations also are presented, including the absent and aberrant internal carotid artery, the persistent stapedial artery, and high jugular bulb; cerebrospinal fluid and perilymph fistulas are the subjects of the final section.

A mathematical function to evaluate surgical complexity of cleft lip and palate.

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Ortiz-Posadas, M R; Vega-Alvarado, L; Toni, B

2009-06-01

The objective of this work is to show the modeling of a similarity function adapted to the medical environment using the logical-combinatorial approach of pattern recognition theory, and its application comparing the condition of patients with congenital malformations in the lip and/or palate, which are called cleft-primary palate and/or cleft-secondary palate, respectively. The similarity function is defined by the comparison criteria determined for each variable, taking into account their type (qualitative or quantitative), their domain and their initial space representation. In all, we defined 18 variables, with their domains and six different comparison criteria (fuzzy and absolute difference type). The model includes, further, the importance of every variable as well as a weight which reflects the surgical complexity of the cleft. Likewise, the usefulness of this function is shown by calculating the similarity among three patients. This work was developed jointly with the Cleft Palate Team at the Reconstructive Surgery Service of the Pediatric Hospital of Tacubaya, which belongs to the Health Institute of the Federal District in Mexico City.

Straight line closure of congenital macrostomia

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Schwarz Richard

2004-01-01

Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

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

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

2006-03-01

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

Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.

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Meyer-Bahlburg, Heino F L; Khuri, Jananne; Reyes-Portillo, Jazmin; Ehrhardt, Anke A; New, Maria I

2018-05-01

The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives. Deductive qualitative content analysis (Patton, 2014) of de-identified transcripts involved categorization of three types of stigma: experienced, anticipated, and internalized. Two-fifths of the participants reported CAH-related stigma in romantic/sexual situations. Stigma enactment by romantic partners occurred in reaction to both genital and non-genital sex-atypical features of CAH and sometimes included explicit questioning of the women's true gender. Stigma anticipation by the women and their related avoidance of nudity, genital exposure, and romantic involvement altogether were frequent. Internalization of stigma occurred as well. In conclusion, the data suggest that many women with CAH experience, anticipate, and/or internalize intersex-related stigma in the context of their romantic/sexual lives.

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

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2012-01-01

Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU) of the University of Nigeria Teaching Hospital (UNTH), Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011) was undertaken. All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome. Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities), limb abnormalities (often in combination with neural tube defects of various types), omphalocoele, umbilical herniae, ano-rectal malformations and dysmorphism associated with multiple congenital abnormalities. Conclusions The results of this study show that 2.8% of babies admitted to a Newborn Special

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria--a retrospective study.

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Obu, Herbert A; Chinawa, Josephat M; Uleanya, Nwachinemere D; Adimora, Gilbert N; Obi, Ikechukwu E

2012-07-10

Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU) of the University of Nigeria Teaching Hospital (UNTH), Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011) was undertaken.All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome.Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities), limb abnormalities (often in combination with neural tube defects of various types), omphalocoele, umbilical herniae, ano-rectal malformations and dysmorphism associated with multiple congenital abnormalities. The results of this study show that 2.8% of babies admitted to a Newborn Special Care Unit in a teaching hospital

Considerations Regarding Age at Surgery and Fistula Incidence Using One- and Two-stage Closure for Cleft Palate

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Simona Stoicescu

2013-12-01

Full Text Available Introduction: Although cleft lip and palate (CLP is one of the most common congenital malformations, occurring in 1 in 700 live births, there is still no generally accepted treatment protocol. Numerous surgical techniques have been described for cleft palate repair; these techniques can be divided into one-stage (one operation cleft palate repair and two-stage cleft palate closure. The aim of this study is to present our cleft palate team experience in using the two-stage cleft palate closure and the clinical outcomes in terms of oronasal fistula rate. Material and methods: A retrospective analysis was performed on medical records of 80 patients who underwent palate repair over a five-year period, from 2008 to 2012. All cleft palate patients were incorporated. Information on patient’s gender, cleft type, age at repair, one- or two-stage cleft palate repair were collected and analyzed. Results: Fifty-three (66% and twenty-seven (34% patients underwent two-stage and one-stage repair, respectively. According to Veau classification, more than 60% of them were Veau III and IV, associating cleft lip to cleft palate. Fistula occurred in 34% of the two-stage repairs versus 7% of one-stage repairs, with an overall incidence of 24%. Conclusions: Our study has shown that a two-stage cleft palate closure has a higher rate of fistula formation when compared with the one-stage repair. Two-stage repair is the protocol of choice in wide complete cleft lip and palate cases, while one-stage procedure is a good option for cleft palate alone, or some specific cleft lip and palate cases (narrow cleft palate, older age at surgery

Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

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Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-01-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed...

[Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina].

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Campaña, Hebe; Pawluk, Mariela S; López Camelo, Jorge S

2010-10-01

The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The model included a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) and Patagonia (PAT). High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and Down syndrome; CUY: postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.

The impact of congenital cardiovascular malformations on the assessment and surgical management of infants with cleft lip and/or palate.

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Harry, Brian L; TeBockhorst, Seth; Deleyiannis, Frederic W-B

2013-05-01

The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. A single-institution retrospective study of 329 consecutive cleft patients was performed. Cardiovascular malformations were categorized according to involvement of cardiac septa, vasculature, and valves. Their impact on the need for cardiac surgery, timing of cleft repair, need for subacute bacterial endocarditis (SBE) prophylaxis, and the perioperative experience was evaluated. Ten percent (33/329) of cleft patients had a cardiovascular malformation, and 3% underwent cardiac surgery prior to cleft repair. Malformations of the septa, vasculature, and valves were present in 9%, 6%, and 2% of cleft infants, respectively. Murmur as a sign of structural cardiovascular disease was 79% sensitive and 97% specific. Cleft palate repair was delayed by 2 months in patients with a cardiovascular malformation (P = .001). Subacute bacterial endocarditis prophylaxis was recommended, not recommended, or not specified by cardiology in 18%, 33%, and 48% of cleft patients with a cardiovascular malformation, respectively. Postoperative stay and surgical complications were not associated with cardiovascular malformation. Even in the absence of a murmur, echocardiographic screening should be considered in infants with nonspecific signs of cardiovascular disease. Greater awareness of the guidelines for SBE prophylaxis is needed. Most cleft patients with a cardiovascular malformation do not require cardiac surgery and do not experience an increased rate of complications associated with cleft surgery.

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

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Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Use of Psychotropic Medications and Visits to Psychiatrists and Psychologists among Individuals with Nonsyndromic Oral Clefts

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Pedersen, Dorthe Almind; Hageman, Ida; Wehby, George L

2017-01-01

BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive. METHODS: Using Danish nationwide registers, we i...

Association between maternal smoking, gender, and cleft lip and palate.

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Martelli, Daniella Reis Barbosa; Coletta, Ricardo D; Oliveira, Eduardo A; Swerts, Mário Sérgio Oliveira; Rodrigues, Laíse A Mendes; Oliveira, Maria Christina; Martelli Júnior, Hercílio

2015-01-01

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. To assess the relationship between maternal smoking, gender and CL/P. This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: mothers of children with CL/P (n=843) and mothers of children without CL/P (n=676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR=3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

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A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae.

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Mahdoufi, Rachid; Barhmi, Ismail; Tazi, Nabil; Rouadi, Sami; Abada, Reda; Roubal, Mohamed; Mahtar, Mohamed

2017-06-01

Thyroglossal duct cysts followed by branchial cleft anomalies are the most common congenital neck masses encountered in practice, second branchial cleft cysts and sinuses are the most common type (LaRiviere and Waldhausen in Surg Clin North Am 92(3):583-597, 2012). Although both abnormalities are common individually, but rarely seen associated in same patient as described in our case. Congenitalcervical anomalies are important to consider in the differential of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies. A synchronous presentation of both type of cyst and fistula in a same child patient is very rare with no such cases reported in literature till date.

Are hypertensive disorders in pregnancy associated with congenital malformations in offspring? Evidence from the WHO Multicountry cross sectional survey on maternal and newborn health.

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Bellizzi, S; Ali, M M; Abalos, E; Betran, A P; Kapila, J; Pileggi-Castro, C; Vogel, J P; Merialdi, M

2016-07-29

Annually, around 7.9 million children are born with birth defects and the contribution of congenital malformations to neonatal mortality is generally high. Congenital malformations in children born to mothers with hypertensive disorders during pregnancy has marginally been explored. Country incidence of congenital malformations was estimated using data on the 310 401 livebirths of the WHO Multicountry Survey which reported information from 359 facilities across 29 countries. A random-effect logistic regression model was utilized to explore the associations between six broad categories of congenital malformations and the four maternal hypertensive disorders "Chronic Hypertension", "Preeclampsia" and "Eclampsia" and "Chronic hypertension with superimposed preeclampsia". The occupied territories of Palestine presented the highest rates in all groups of malformation except for the "Lip/Cleft/Palate" category. Newborns of women with chronic maternal hypertension were associated with a 3.7 (95 % CI 1.3-10.7), 3.9 (95 % CI 1.7-9.0) and 4.2 (95 % CI 1.5-11.6) times increase in odds of renal, limb and lip/cleft/palate malformations respectively. Chronic hypertension with superimposed preeclampsia was associated with a 4.3 (95 % CI 1.3-14.4), 8.7 (95 % CI 2.5-30.2), 7.1 (95 % CI 2.1-23.5) and 8.2 (95 % CI 2.0-34.3) times increase in odds of neural tube/central nervous system, renal, limb and Lip/Cleft/Palate malformations. This study shows that chronic hypertension in the maternal period exposes newborns to a significant risk of developing renal, limb and lip/cleft/palate congenital malformations, and the risk is further exacerbate by superimposing eclampsia. Additional research is needed to identify shared pathways of maternal hypertensive disorders and congenital malformations.

Is PRP useful in alveolar cleft reconstruction? Platelet-rich plasma in secondary alveoloplasty.

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Luaces-Rey, Ramon; Arenaz-Búa, Jorge; Lopez-Cedrún-Cembranos, José-Luis; Herrero-Patiño, Susana; Sironvalle-Soliva, Sheyla; Iglesias-Candal, Emma; Pombo-Castro, María

2010-07-01

Cleft lip and palate is a congenital facial malformation with an established treatment protocol. Mixed dentition period is the best moment for correct maxillary bone defect with an alveoloplasty. The aim of this surgical procedure is to facilitate dental eruption, re-establish maxillary arch, close any oro-nasal communication, give support to nasal ala, and in some cases allow dental rehabilitation with osteointegrated implants. Twenty cleft patients who underwent secondary alveoloplasty were included. In 10 of them autogenous bone graft were used and in other 10 autogenous bone and platelet-rich plasma (PRP) obtained from autogenous blood. Bone formation was compared by digital orthopantomography made on immediate post-operatory and 3 and 6 months after the surgery. No significant differences were found between both therapeutic groups on bone regeneration. We do not find justified the use of PRP for alveoloplasty in cleft patients' treatment protocol.

The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

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Hyun Ho Han

2016-03-01

Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

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LaRiviere, Cabrini A; Waldhausen, John H T

2012-06-01

Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence. Copyright © 2012 Elsevier Inc. All rights reserved.

Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

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Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro

1999-01-01

Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirety. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author))

Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

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Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro [Tokyo Dental Coll., Chiba (Japan)] (and others)

1999-06-01

Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirey. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author)

Cleft Lip and Cleft Palate

Science.gov (United States)

... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... malformation of the upper airway can affect the function of the Eustachian tube and increase the possibility ...

First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

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Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-10-01

First branchial cleft anomalies manifest with duplication of the external auditory canal. This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

Fenda cervical mediana Midline cervical cleft

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José V. Tagliarini

2004-10-01

Full Text Available A fenda mediana congênita do pescoço é anomalia rara da parte ventral do pescoço. Em torno de 100 casos foram relatados na literatura, sendo o primeiro caso descrito por Bailey em 1924. Este defeito é relatado em associação com fenda mediana do lábio inferior, fenda da mandíbula e da língua, e hipoplasia de outras estruturas cervicais medianas. Acredita-se que seja uma malformação originada dos dois primeiros arcos branquiais. O tratamento da lesão consiste na excisão vertical da lesão e reparação do defeito resultante. A maioria dos autores recomenda evitar a reparação simples da lesão, preferindo a fechamento com a utilização de zetaplastia múltiplas, com o intuito de evitar fibrose e retração local. Neste artigo relatamos dois casos dessa anomalia e realizamos revisão bibliográfica.The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with median cleft of lower lip, cleft mandible and tongue, and hypoplasia of other midline neck structures. Its considered an anomaly originated from the two first branchial arches. The treatment of this cleft is a vertical complete excision and a closure with multiple Z-plasty. Many authors recommend avoid linear closure and prefer multiple Z-plasty for evicted fibrosis and local retraction. In this paper we report 2 case of this anomaly and the literature is reviewed.

The effect of cleft lip on adults' responses to faces: cross-species findings.

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Christine E Parsons

Full Text Available Cleft lip and palate is the most common of the congenital conditions affecting the face and cranial bones and is associated with a raised risk of difficulties in infant-caregiver interaction; the reasons for such difficulties are not fully understood. Here, we report two experiments designed to explore how adults respond to infant faces with and without cleft lip, using behavioural measures of attractiveness appraisal ('liking' and willingness to work to view or remove the images ('wanting'. We found that infants with cleft lip were rated as less attractive and were viewed for shorter durations than healthy infants, an effect that was particularly apparent where the cleft lip was severe. Women rated the infant faces as more attractive than men did, but there were no differences in men and women's viewing times of these faces. In a second experiment, we found that the presence of a cleft lip in domestic animals affected adults' 'liking' and 'wanting' responses in a comparable way to that seen for human infants. Adults' responses were also remarkably similar for images of infants and animals with cleft lip, although no gender difference in attractiveness ratings or viewing times emerged for animals. We suggest that the presence of a cleft lip can substantially change the way in which adults respond to human and animal faces. Furthermore, women may respond in different ways to men when asked to appraise infant attractiveness, despite the fact that men and women 'want' to view images of infants for similar durations.

Growth and development in children with classic congenital adrenal hyperplasia.

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Bonfig, Walter

2017-02-01

Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening. Clinical diagnosis of CAH leads to delayed diagnosis especially of simple virilizing CAH with significantly advanced bone age resulting in early pubertal development and reduced final height. In contrast salt-wasting CAH is diagnosed at an earlier stage in most cases resulting in better final height outcome in some cohorts. Nevertheless, final height outcome in patients with CAH treated with glucocorticoids is lower than the population norm and also at the lower end of genetic potential. Achievement of regular adult height is still a challenge with conventional glucocorticoid treatment in patients with CAH, which is why new hydrocortisone formulations and new treatment options for CAH are underway.

Cleft lip and cleft palate relationship with familial marriage: a study in 136 cases

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Azimi C

2010-02-01

Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Clefts of the lip and palate are one of the most common congenital birth anomalies. Genetic factors play a great role in the etiology of them and the high percentage of the consanguineous marriage of the parents of the affected persons is one of the reasons. These defects not only make abnormal changes on appearance of the neonate, but also make a lot of stress and psychological problems for the patients and their families. Study on the prevalence of clefts, their risk factors and also genetic counseling for affected persons and their families can be a guideline for general population and probably reduce these anomalies over the generations."n"nMethods: Patients referred to the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A total of 7374 pedigrees of all the patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the patients with cleft lip± palate or isolated cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of consanguineous marriage, positive family history and sex were investigated among cases."n"nResults: 70.8% of patients with syndromic clefts and 58.7% of patients with nonsyndromic CL�

Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts.

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Ha, E J; Baek, S M; Baek, J H; Shin, S Y; Han, M; Kim, C-H

2017-12-01

Branchial cleft cyst is a common congenital lesion of the neck. This study evaluated the efficacy and safety of ethanol ablation as an alternative treatment to surgery for branchial cleft cyst. Between September 2006 and October 2016, ethanol ablation was performed in 22 patients who refused an operation for a second branchial cleft cyst. After the exclusion of 2 patients who were lost to follow-up, the data of 20 patients were retrospectively evaluated. All index masses were confirmed as benign before treatment. Sonography-guided aspiration of the cystic fluid was followed by injection of absolute ethanol (99%) into the lesion. The injected volume of ethanol was 50%-80% of the volume of fluid aspirated. Therapeutic outcome, including the volume reduction ratio, therapeutic success rate (volume reduction ratio of >50% and/or no palpable mass), and complications, was evaluated. The mean index volume of the cysts was 26.4 ± 15.7 mL (range, 3.8-49.9 mL). After ablation, the mean volume of the cysts decreased to 1.2 ± 1.1 mL (range, 0.0-3.5 mL). The mean volume reduction ratio at last follow-up was 93.9% ± 7.9% (range, 75.5%-100.0%; P branchial cleft cysts who refuse, or are ineligible for, an operation. © 2017 by American Journal of Neuroradiology.

Cleft lip and/or palate genetic conditioning – is MMP2 gene polymorphism important for thisdefect development?

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Marzena Zalewska-Ziob

2014-09-01

Full Text Available Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005. Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.

Related risk factors of cleft lip and palate in a group of infants born in Tehran (2012-2015

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R.Hamedi

2017-10-01

Full Text Available Background: Cleft lip and palate is one of the most common congenital anomalies. The etiology of non syndromic orofacial clefts is multifactorial. Objective: The aim of this study was to evaluate the related risk factors of cleft lip and palate in a group of infants born in Tehran during the years between 2012-2015. Methods: In this case-control study the files of 105 newborns with oral clefts, and 218 normal newborns as control group with their mothers were evaluated in Mofid Hospital in Tehran. Data were analyzed by Chi-square test. Findings: Among 105 cases, 40 cases (38% were females and 65 cases (62% were males. The frequency of cleft lip and palate, cleft palate and cleft lip were 58%, 27.6% and 14.2% respectively. A significant relationship was found between parents with familial marriage (P=0.001. The highest number of clefts belonged to 25-35 year-old mothers (51.4%, 41% of mothers reported smoking during pregnancy thus maternal smoking would be an effective predisposing factor to have a child with oral clefts (P=0.001. Conclusion: The results of this study indicate that history of familial matrimony, mother’s age above 35 years and maternal smoking during pregnancy can enhance the risk of orofacial clefts 18, 17 and 14 times respectively. These findings emphasize the importance of preconception counseling of mothers-to-be on amendable lifestyle factors in order to reduce the birth prevalence of cleft lip/palate in future generations.

Maternal smoking in pregnancy and risk for congenital malformations

DEFF Research Database (Denmark)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

2014-01-01

and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

Tympanogram findings in patients with cleft palates aged six months to seven years

Science.gov (United States)

Yanti, A.; Widiarni, D.; Alviandi, W.; Tamin, S.; Mansyur, M.

2017-08-01

Cleft palate is one of the most common congenital craniofacial deformities. Otitis media with effusion (OME) is a middle ear disease having a prevalence of almost 90% in patients with cleft palates. Tympanometry is a fast, safe, non-invasive, and easy tool for diagnosing middle ear disease qualitatively and quantitatively. Studies have been conducted using tympanometry to detect middle ear conditions in patients with cleft palates, but no research has studied tympanogram findings in patients with cleft palates in Indonesia. The aim of this study is to determine the tympanogram findings in Indonesian children aged six months to seven years with cleft palates. This is a cross-sectional study of 30 patients (17 males and 13 females) with Veau classification of palatal clefts aged six months to seven years (median 26.5 months) who underwent tympanometry examinations using a 226 Hztympanometer. Tympanograms were classified using the Jerger/Liden classification. Examinations of 58 ears found that type B tympanograms occurred most frequently (70.7%). The quantitative values of tympanometry analyzed included SAA (0.1-0.2 cm3), TPP value (-197.2-(-146.8 daPa)), Vec value (0.5-0.6 cm3), and gradient value (0.03-0.07 cm3). Using the Fisher test, a significant relationship was found between age and type of tympanogram (p = 0.0039) with the risk of type B and C tympanograms in infants (6-60 months) as high as 4.8 times that of children without cleft palates. The type B tympanogram was most frequently seen in patients with cleft palates aged six months to seven years old with the quantitative values of tympanometry lower than the normal values. Therefore, there was a significant difference in the type of tympanogram seen with age.

Descriptive study of cleft lip and palate related to individual, systemic and social factors

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Thiago Machado Ardenghi

2008-01-01

Full Text Available Objectives: Verify the types of fissures that most affect patients under 12 years of age, at the Facial Deformity Rehabilitation Center in São Paulo, and evaluate individual, systemic and social factors.Methods: A sample of 100 children and adolescents with cleft lip and palate were selected with the purpose of collecting data as regards sex, race, type of fissure and side affected, syndromes, sequences and associated malformations, presence of family history of fissure, and age of parents at the time of the child’s conception. The patients’ parents answered a previously validated questionnaire with closed questions to provide data as regards the socio-economic factor. All the information was stored in a database and submitted to descriptive statistical analysis. Results: 61% of population sample was of the male gender and 92% was of the white race. The incisive trans-foramen fissure was prevalent (62% and the unilateral fissures were most frequent (65.8%, and the left side was the most affected (44.3%. As regards systemic factors, 22% of the patients had syndromes or sequences; the most frequently associated syndrome was the Pierre Robin. Among the malformation associated with cleft lip and palate fissures, congenital heart diseases were prevalent (37.9%. Family recurrence of fissures was shown in only 23% of cases. The family nuclei were composed of married parents (84%, who had higher education (47% and worked full time (81%. Conclusion: There was greater frequency of the incisive trans-foramen fissure and greater occurrence in the male gender. Congenital heart diseases and the Pierre Robin sequence were the syndromes most frequently associated with cleft lip and palate. There was no family tendency towards cleft lip and palate fissures, and the majority of families were in a good socio-economic and educational condition.

An outcome study of a 2-flap pushback palatoplasty used in the treatment of wide cleft palates.

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Lin, Kant Y; Black, Jonathan S; Wang, Jessica S; Kerpelman, Jocelyn; Ho, Thuy-Van Tina; Borowitz, Kathleen

2015-05-01

Cleft palate remains a common congenital deformity. The wide cleft palate in particular presents a unique challenge when attempting to restore a competent velopharyngeal mechanism. We present an outcome study of a single surgeon's experience using a modified surgical technique designed to specifically address the wide cleft palate. The surgical technique consisted of a 2-flap pushback palatoplasty without nasal mucosa closure combined with an end-to-end intravelar veloplasty and was used in cleft palates greater than or equal to 10 mm in width. A retrospective, longitudinal outcome study from chart review was then performed where age at surgery, sex, Veau classification of the cleft type, and follow-up length were recorded for each patient. Postsurgery speech outcomes were assessed by standardized speech evaluation performed by a speech language pathologist, and the presence and location of unplanned oronasal fistulas were recorded. Our study revealed an overall incidence of velopharyngeal insufficiency (VPI) of 10.8% and an unplanned symptomatic fistula rate of 16.8%. There was a significant correlation between the Veau classification of the cleft type with the incidence of both VPI and the occurrence of an unplanned oronasal fistula. Application of this surgical technique, specifically to wider cleft palates, resulted in VPI and fistula rates comparable to rates reported with other techniques used in clefts of all widths. Additional information regarding subsequent growth disturbances of the craniofacial skeleton in these patients is currently being collected.

Large Sphenoethmoidal Encephalocele Associated with Agenesis of Corpus Callosum and Cleft Palate

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Basir Hashemi

2010-06-01

Full Text Available AbstractBasal encephalocele is a rare craniofacial anomaly. In the presentpaper we report a 10-year-old boy presented with cleftpalate, congenital nystagmus, and hypertelorism. During preoperativeevaluation for cleft palate repair, a pulsatile masswas detected in the pharynx. Magnetic resonance imagingshowed sphenoethmoidal type of basal encephalocele andagenesis of corpus callosum. Neurosurgical consultation wasperformed for further evaluation and management.Iran J Med Sci 2010; 35(2: 154-156.

First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

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Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-01-01

Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

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shahin abdollahi fakhim

2014-10-01

Full Text Available Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal.   Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection.   Conclusion:  It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

Velopharyngeal sphincter pathophysiologic aspects in the in cleft palat

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Collares, Marcus Vinicius Martins

2008-09-01

Full Text Available Introduction: Cleft lip and palate are common congenital abnormalities with typical functional disorders on speech, deglutition and middle ear function. Objective: This article reviews functional labiopalatine disorders through a pathophysiological view. Method: We performed a literature search on line, as well as books and periodicals related to velopharyngeal sphincter. Our sources were LILACS, MEDLINE and SciELO databases, and we applied to the research Keywords of interest on the velopharyngeal pathophysiology, for articles published between 1965 and 2007. Conclusion: Velopharyngeal sphincter plays a central role in speech, swallowing and middle ear physiology in patients with labiopalatine cleft. At the end of our bibliographic review, pursuant to the velopharyngeal physiology in individuals with this disorder in the functional speech, deglutition and otologic function, we observed that although there is a great number of published data discussing this issue, further studies are necessary to completely understand the pathophysiology, due to the fact they have been exploited superficially.

Assessing an avoidable and dispensable reoperative entity: Self-referred flawed cleft lip and palate repair.

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Foroglou, Pericles; Tsimponis, Antonis; Goula, Olga-Christina; Demiri, Efterpi

2015-01-01

Cleft lip and palate (CLP) is comprised within the wide range of congenital deformities of the maxillofacial region with an overall incidence on the increase from 1:1000 to 1:700 live births thus being the most common congenital birth error. Failure of the lateral and medial nasal processes to fuse with the anterior extension of maxillary processes and of the palatal shelves between the 4th and 8th gestational week results in cleft lip and palate. Clefts include different types with variable severity, confirming the complexity and unpredictable expression of cleft modality and have a multifactorial aetiology. Functional impairment, aesthetic disturbances and psychosocial effects are common sequalae in patients with cleft lip and palate. The main long-term morbidity of this condition may include dysfunctional speech, impaired hearing and communication, as well as dental problems. These complications are followed by unfavourable surgical outcome and aesthetic appearance, which all seem to affect this group of patients significantly and have an impact significantly both quality of life and healthcare. Treatment requirements of cleft patients are multifactorial and a multi-disciplinary approach and intervention at multiple levels is necessary. Yet, in this country, resources available to parents and consistent publicity given to this issue and its treatment are still inadequate in spite of the introduction of "Centres of Excellence" and Unified Hospitalization Coding or DRG equivalents to optimize health management. The multi-disciplinary approach to cleft management has been a reality for over a century while cleft treatment protocols are still being evaluated in order to optimise standards of cleft care. According to relevant guidelines primary surgical management of lip and palate defects is performed during the first 3 to 9 months of life. Secondary operations in the form of revisional lip and nose procedures are performed at later stages aiming with an

Fourth branchial cleft anomaly: management strategy in acute presentation.

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Carta, Filippo; Sionis, Sara; Mascia, Luigi; Puxeddu, Roberto

2014-09-01

Branchial malformations are common congenital head and neck lesions usually diagnosed in childhood during the first decade of life. Acute presentation is usually managed with conservative protocols before a definitive surgical procedure although the risk of life-treating septic complications may influence the physician's decision. Surgery is the treatment of choice with the removal of the lesion alone, nevertheless more aggressive approaches must be considered in complicated cases. Selective neck dissection including the removal of part of the thyroid lobe with the congenital lesion should be considered as the "ultima ratio" treatment to avoid recurrence. We reviewed literature and report our experience concerning two patients with fourth branchial cleft sinus. A three-year-old child with a clinical history of recurrent neck abscess was referred to our department after several drainages performed in another centre. A three-year-old child referred to our department for a left side lower primary neck abscess. In both cases the diagnosis of a complicated fourth cleft remnant was confirmed by rigid endoscopic visualization of the mucosal orifice of the sinus in the pyriform fossa. Surgical management during acute presentation was challenging; in one patient the early fasciitis required an emergency procedure to remove the infected sinus that were strictly adherent to the deep vascular-nervous axis. Surgery was the definitive treatment in both cases and at 12 and 25 months follow-up respectively no recurrences were observed. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Health Status Among Adults Born With an Oral Cleft in Norway.

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Berg, Erik; Haaland, Øystein A; Feragen, Kristin B; Filip, Charles; Vindenes, Hallvard A; Moster, Dag; Lie, Rolv T; Sivertsen, Åse

2016-11-01

Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. To assess whether oral clefts affect the health and ability to work of young adults. A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860). This study used population-based, long-term follow-up data from national registries to focus on the future health outcomes of individuals with cleft and no additional chronic medical conditions or congenital anomalies. A total of 523 individuals were excluded from the study cohort because they declined participation, could not be reached by mail, or had birth defects other than clefts. The final cohort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followed up until December 31, 2010, using compulsory national registries and clinical data. Data analysis was conducted from February 13, 2014, to April 18, 2016. Oral clefts. Death, intellectual disability, schizophrenia, mood affective disorders, anxiety disorders, autism spectrum disorders, attention deficit/hyperactivity disorder, severe learning disability, cerebral palsy, epilepsy, muscle or skeletal disorders, trauma, and episodes of reduced health. Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 1401 were male (59.9%). Mean (SD) age in 2010 was 30.6 (7.7) years. Compared with unaffected individuals, no increased risks were found regarding morbidity or mortality among persons with isolated cleft lip only. Among individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI, 1.2-4.1) and cerebral palsy (RR, 2.6; 95% CI, 1.1-6.2) were found. Individuals with isolated cleft palate (ie, without cleft lip) had increased mortality

Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate.

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Ma, Xiaoran; McPherson, Bradley; Ma, Lian

2016-01-01

Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated with cleft disorders, further research

Mondini defect in association with multiple congenital anomalies.

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Sekhar, H K; Sachs, M

1976-01-01

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

Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

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Despite cleft palate repair, velopharyngeal competence is not achieved in ~ 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resi...

Cleft Lip and Palate

Science.gov (United States)

Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

Psychological issues in cleft lip and cleft palate

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Sousa Avinash

2009-01-01

Full Text Available Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical team to maximize positive outcome of surgery and rehabilitation. This study discusses psychological issues revolving around cleft lip and cleft palate along with lacunae in many psychological research studies.

Prevalence of cleft lip and cleft palate in rural north-central guatemala.

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Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

2015-05-01

To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

Three-dimensional morphology of first molars in relation to ethnicity and the occurrence of cleft lip and palate.

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Echtermeyer, Sandra; Metelmann, Philine H; Hemprich, Alexander; Dannhauer, Karl-Heinz; Krey, Karl-Friedrich

2017-01-01

This study aims to describe morphological peculiarities of maxillary and mandibular first molars in Europeans, Asians and Europeans with cleft lip and palate. Reflex microscopy was used to obtain three-dimensional morphometric landmarks from 40 models (11 Europeans and 13 Asians without cleft lip and palate, 16 Europeans with unilateral cleft lip and palate). The cases were examined using traditional morphometry and geometric morphometry, and visualized using thin-plate splines. Classic morphometry showed no right/left differences in the study groups and no significant differences with regard to the cleft side in patients with cleft lip and palate. In Asians, a significantly greater mesiodistal width was found. Geometric morphometry showed an enlarged centroid size in Asians (maxilla and mandible). In cleft patients, the cleft site did not appear to impact the morphology of first molars. Unilateral clefting did not affect the size and shape of molars; however, characteristic ethnicity-based differences were in fact identified. The results are relevant for orthodontic treatment with preadjusted appliances, and prosthetic CAD/CAM restorations.

A Multivariate Analysis of Unilateral Cleft Lip and Palate Facial Skeletal Morphology.

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Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

2015-07-01

Unilateral cleft lip and palate (UCLP) occurs when the maxillary and nasal facial prominences fail to fuse correctly during development, resulting in a palatal cleft and clefted soft and hard tissues of the dentoalveolus. The UCLP deformity may compromise an individual's ability to eat, chew, and speak. In this retrospective cross-sectional study, cone beam computed tomography (CBCT) images of 7-17-year-old individuals born with UCLP (n = 24) and age- and sex-matched controls (n = 24) were assessed. Coordinate values of three-dimensional anatomical landmarks (n = 32) were recorded from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean distance matrix analysis (EDMA). Approximately 40% of morphometric variation is captured by PCOORD axes 1-3, and the negative and positive ends of each axis are associated with specific patterns of morphological differences. Approximately 36% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. Although significant form differences occur across the facial skeleton, strong patterns of morphological differences were localized to the lateral and superioinferior aspects of the nasal aperture, particularly on the clefted side of the face. The UCLP deformity strongly influences facial skeletal morphology of the midface and oronasal facial regions, and to a lesser extent the upper and lower facial skeletons. The pattern of strong morphological differences in the oronasal region combined with differences across the facial complex suggests that craniofacial bones are integrated and covary, despite influences from the congenital cleft.

Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

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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.

Work type II first branchial cleft cyst: a rare anomaly with a classical ...

African Journals Online (AJOL)

such cases. The branchial apparatus starts to appear between the fourth and the fifth weeks of fetal develop- ment. The apparatus consists of five arches consisting of the mesoderm, four clefts that consist of the ectoderm and four pouches that consist of the endoderm. The first branchial pouch forms the Eustachian tube and ...

Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

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Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

2016-01-01

Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

DEFF Research Database (Denmark)

Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.

2017-01-01

Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have h...

Cleft lip and palate in context: Learning from, and adding to, the sociological literature on long-term conditions.

Science.gov (United States)

Abualfaraj, Raed; Daly, Blanaid; McDonald, Fraser; Scambler, Sasha

2018-07-01

Cleft lip and palate is a common congenital anomaly affecting males and females. While there is psychological research on cleft lip and palate, there is relatively little research exploring the social context of cleft lip and palate and the experiences of living with the condition on a daily basis. Drawing on common themes emerging from sociological work which have explored the experiences of people living with long-term conditions (uncertainty, social relations, self-esteem and self-image and biomedical concerns), we argue that these themes can be used to help elucidate the experiences of people living with cleft lip and palate. Within this framework, the findings of a qualitative study exploring the experiences of people living with cleft lip and palate are presented. The results suggest that all four themes can be found within the accounts of people living with cleft lip and palate, and there are many commonalities between the experiences of these people and those living with other long-term conditions. Conversely there are interesting areas of divergence. Unlike most long-term conditions, cleft lip and palate is not degenerative and treatment means symptoms will reduce over time. This is reflected in narratives around 'normality' as the endpoint of the care pathway. In addition, prenatal diagnosis means that the vast majority of participants within this study were born into, and grew up within, the care pathway. This has implications for the way in which cleft lip and palate is understood and the provision of information, relationships with members of the care team over time and the temporal and contextualised impact of cleft lip and palate on social relations and the self.

Combined approach branchial sinusectomy: a new technique for excision of second branchial cleft sinus.

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Olusesi, A D

2009-10-01

Branchial cleft anomalies are well described, with the second arch anomaly being the commonest. Following surgical excision, recurrence occurs in 2 to 22 per cent of cases, and is believed to be due largely to incomplete resection. This report aims to describe a simple surgical technique for treatment of second branchial cleft sinus in the older paediatric age group and adults. An 11-year-old girl underwent surgical excision of a second branchial sinus. Prior to surgery, she was assessed by means of an imaging sonogram, and by direct methylene blue dye injection into the sinus on the operating table, followed by insertion of a metallic probe. Dissection was of the 'step ladder' incision type, but the incision was completed via an oropharyngeal approach. Histological examination of the lesion after excision established the diagnosis. No recurrence had been observed at the time of writing. Although they are congenital lesions, second branchial cleft abnormalities usually present in the older paediatric age group or even in adulthood. In the case reported, a simple combined approach ensured completeness of resection.

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction

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M Pasupathy

2016-01-01

Full Text Available Acampomelic campomelic dysplasia (CD is a type of CD (CD; OMIM #114290, a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpatient clinic for cleft palate reconstruction. Our neurosurgeon cautioned us against performing surgery with extension of the neck in view of the possibility of producing quadriparesis, due to narrowing of the spinal canal as part of the osseous anomaly noted in the magnetic resonance imaging study of the spine, thus making the anaesthesia, surgical and post-operative procedures difficult. The cleft palate reconstruction was performed with all precautions and was uneventful.

Type I-II laryngeal cleft: clinical course and outcome.

Science.gov (United States)

Slonimsky, Guy; Carmel, Eldar; Drendel, Michael; Lipschitz, Noga; Wolf, Michael

2015-04-01

Laryngeal cleft (LC) is a rare congenital anomaly manifesting in a variety of symptoms, including swallowing disorders and aspirations, dyspnea, stridor and hoarseness. The mild forms (types I-II) may be underdiagnosed, leading to protracted symptomatology and morbidity. To evaluate the diagnostic process, clinical course, management and outcome in children with type I-II laryngeal clefts. We conducted a retrospective case analysis for the years 2005-2012 in a tertiary referral center. Seven children were reviewed: five boys and two girls ranging in age from birth to 5 years. The most common presenting symptoms were cough, aspirations and pneumonia. Evaluation procedures included fiber-optic laryngoscopy (FOL), direct laryngoscopy (DL) and videofluoroscopy. Other pathologies were seen in three children. Six children underwent successful endoscopic surgery and one child was treated conservatively. The postoperative clinical course was uneventful in most of the cases. Types I-II LC should be considered in the differential diagnosis of children presenting with protracted cough and aspirations. DL is crucial for establishing the diagnosis. Endoscopic surgery is safe and should be applied promptly when conservative measures fail.

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Congenital cystic masses of the face and neck: CT evaluation

International Nuclear Information System (INIS)

Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon

1991-01-01

Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures

Congenital cystic masses of the face and neck: CT evaluation

Energy Technology Data Exchange (ETDEWEB)

Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon [Gyeongsang National University, Jinju (Korea, Republic of)

1991-09-15

Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures.

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

Science.gov (United States)

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

Bony defect of palate and vomer in submucous cleft palate patients.

Science.gov (United States)

Ren, S; Ma, L; Zhou, X; Sun, Z

2015-01-01

The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex. Copyright © 2014 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

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

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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.

Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59)

NARCIS (Netherlands)

Albers, Andreas E.; Reichelt, Andreas C.; Nolst-Trenité, Gilbert J.; Menger, Dirk Jan

2016-01-01

The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased

Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

2016-01-01

Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, pdental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate

DEFF Research Database (Denmark)

Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A

2009-01-01

Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we......) and rs4460498 (p=6.51E-12) were located inside a 70Kb high LD block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated indicating that FOXE1 plays a role in two phenotypes thought to be genetically...

Pattern of clefts and dental anomalies in six-year-old children: a retrospective observational study in western Norway.

Science.gov (United States)

Sæle, Paul; Østhus, Eirik; Ådalen, Sondre; Nasir, Elwalid F; Mustafa, Manal

2017-03-01

Clefts of the lip and/or palate (CL/P) are the most common congenital disorders of the head and neck. In Norway, the incidence is 1.9/1000 live births. The aim of this study was to investigate the frequency and distribution of various types of clefts and dental anomalies in patients treated by the cleft lip and palate (CLP) team in Bergen, Norway. The material comprised the records of patients 6 years of age, examined by the CLP team in Bergen from spring 1993 to autumn 2012, incomplete records were excluded. The records of 989 patients were analysed, using frequencies and Chi-square test to compare differences in percentages between groups. The gender distribution was 58.8% male and 41.2% female. Isolated cleft palate (CP) was the most common condition (39.5%). Clefts of the lip, jaw and palate (CLP) constituted (30%) of cases and (30.5%) had isolated cleft lip (CL). The frequencies of agenesis, supernumerary and peg-shaped teeth were (36.5%), (17.8%) and (7.5%), respectively. Over 50% of the study population were diagnosed with one or more malocclusion. Of the CLP patients, 61.4% had Angle Class III occlusion. Statistical analysis disclosed a positive association of agenesis with Class III occlusion (OR =1.8, p≤ 0.001). The findings supported the hypothesis that the distribution of dental anomalies and occlusal disorders varied among patients with CL, CP and CLP. In patients with cleft, there is a twofold chance to get Class III malocclusion in the presence of agenesis.

Cleft Palate; A Multidiscipline Approach.

Science.gov (United States)

Stark, Richard B., Ed.

Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

Modified Quad Helix for Correction of Severely Rotated Incisors in Cleft Cases

Directory of Open Access Journals (Sweden)

Aneesha Ashok Shetty

2014-01-01

Full Text Available Clefts of the lip, alveolus and/or palate are often associated with several dental anomalies, the most common of which are severely rotated maxillary incisors. Patients with such congenital deformities seek orthodontic treatment as early as possible, for an esthetic as well as psychosocial benefit. Here, a new clinical technique is demonstrated for correction of a severely rotated maxillary central incisor which can be carried out in the mixed dentition phase itself, by modifying a commonly used palatal expansion appliance: the quad helix.

Congenital mucous retention cyst of the anterior hard palate! The first case report.

Science.gov (United States)

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-10-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or 'Neuman's Tumour' as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature.

Influence of lip closure on alveolar cleft width in patients with cleft lip and palate

Directory of Open Access Journals (Sweden)

Schmelzle Rainer

2011-01-01

Full Text Available Abstract Background The influence of surgery on growth and stability after treatment in patients with cleft lip and palate are topics still under discussion. The aim of the present study was to investigate the influence of early lip closure on the width of the alveolar cleft using dental casts. Methods A total of 44 clefts were investigated using plaster casts, 30 unilateral and 7 bilateral clefts. All infants received a passive molding plate a few days after birth. The age at the time of closure of the lip was 2.1 month in average (range 1-6 months. Plaster casts were obtained at the following stages: shortly after birth, prior to lip closure, prior to soft palate closure. We determined the width of the alveolar cleft before lip closure and prior to soft palate closure measuring the alveolar cleft width from the most lateral point of the premaxilla/anterior segment to the most medial point of the smaller segment. Results After lip closure 15 clefts presented with a width of 0 mm, meaning that the mucosa of the segments was almost touching one another. 19 clefts showed a width of up to 2 mm and 10 clefts were still over 2 mm wide. This means a reduction of 0% in 5 clefts, of 1-50% in 6 clefts, of 51-99% in 19 clefts, and of 100% in 14 clefts. Conclusions Early lip closure reduces alveolar cleft width. In most cases our aim of a remaining cleft width of 2 mm or less can be achieved. These are promising conditions for primary alveolar bone grafting to restore the dental bony arch.

Global oral health inequalities: challenges in the prevention and management of orofacial clefts and potential solutions.

Science.gov (United States)

Mossey, P A; Shaw, W C; Munger, R G; Murray, J C; Murthy, J; Little, J

2011-05-01

The birth prevalence of orofacial clefts, one of the most common congenital anomalies, is approximately one in 700 live births, but varies with geography, ethnicity, and socio-economic status. There is a variation in infant mortality and access to care both between and within countries, so some clefts remain unrepaired into adulthood. Quality of care also varies, and even among repaired clefts there is residual deformity and morbidity that significantly affects some children. The two major issues in attempts to address these inequalities are (a) etiology/possibilities for prevention and (b) management and quality of care. For prevention, collaborative research efforts are required in developing countries, in line with the WHO approach to implement the recommendations of the 2008 Millennium Development Goals (www.un.org/millenniumgoals). This includes the "common risk factor" approach, which analyzes biological and social determinants of health alongside other chronic health problems such as diabetes and obesity, as outlined in the Marmot Health inequalities review (2008) (www.ucl.ac.uk/gheg/marmotreview). Simultaneously, orofacial cleft research should involve clinical researchers to identify inequalities in access to treatment and identify the best interventions for minimizing mortality and residual deformity. The future research agenda also requires engagement with implementation science to get research findings into practice.

Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

Directory of Open Access Journals (Sweden)

Asaranti Kar

2016-01-01

Full Text Available Meckel-Gruber syndrome (MGS is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

Skull thickness in patients with clefts

DEFF Research Database (Denmark)

Arntsen, T; Kjaer, I; Sonnesen, L

2010-01-01

The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP).......The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP)....

Dimensions of the cleft nasal airway in adults: a comparison with subjects without cleft.

Science.gov (United States)

Hairfield, W M; Warren, D W

1989-01-01

The prevalence of mouthbreathing among individuals with cleft lip and palate is significantly higher than in the normal population. This has been attributed to nasal deformities that tend to reduce nasal airway size. The purpose of the present study was to determine how a heterogeneous adult group with cleft lip and palate differs in terms of nasal airway cross-sectional area from an adult group without cleft during the inspiratory and expiratory phases of breathing. The pressure-flow technique was used to estimate nasal airway size in 15 adults without cleft (15 years or older) and 37 adults with cleft lip, cleft palate, or both. Mean areas and standard deviations for subjects without cleft were 0.63 cm2 +/- 0.17 during inspiration and 0.56 cm2 +/- 0.14 during expiration. This difference is statistically significant (p less than 0.01). Mean areas and standard deviations for all subjects with cleft were 0.37 cm2 +/- 0.18 during inspiration and 0.40 cm2 +/- 0.20 during expiration. This difference is not statistically significant (p greater than 0.15). Twenty-two of the subjects with cleft had nasal areas considered to be impaired (below 0.40 cm2) as compared with only three of the subjects without cleft. A two factor analysis of variance (ANOVA) demonstrated that area changes during respiration are different for subjects with and without cleft (p less than 0.005), and that cleft nasal areas are smaller than noncleft areas for both phases of breathing (p less than 0.001). Inspiratory-expiratory differences between subjects with and without cleft are probably the result of developmental defects, reparative surgery or both.(ABSTRACT TRUNCATED AT 250 WORDS)

Respiratory Polysomnographic Findings in Patients Treated Primarily for Unilateral Cleft Lip and Palate.

Science.gov (United States)

Sobral, Davi Sandes; Faller, Gustavo Juliane; Collares, Marcus Vinícius Martins

2018-02-01

Cleft lip and palate (CLP) is the most common congenital craniofacial abnormality. Obstructive sleep apnea syndrome (OSAS) is a highly prevalent but underdiagnosed disease and is frequently associated with craniofacial anomalies. There are few studies describing the sleep breathing pattern of children with CLP. This study sought to characterize the respiratory profile of 23 children with unilateral cleft lip and palate, aged 7-12 years, who had undergone cleft lip and nasal repair at age 3-4 months and palatoplasty at 12-15 months, with a particular focus on evaluating the presence of OSAS in children with CLP. Polysomnography was performed and findings were analyzed descriptively. We found a mean and median for apnea/hypopnea index (AHI) of 1.11/h (SD = 0.78) and 0.9/h, respectively. The mean obstructive apnea index (OAI) was 0.27/h (SD = 0.38) and the median, 0.1/h. Nearly 30% of patients had an AHI above 1.4 events/h. There was no significant oxyhemoglobin desaturation in the study group. In this group, the prevalence of OSAS was higher than in noncleft populations when compared to the normality values adopted. This sample of patients with unilateral cleft lip and palate exhibited an increased prevalence of OSAS during the mixed dentition stage. Although the results showed that OSAS was mild, we advise closer observation of these patients. Polysomnography is recommended for the assessment of children with airway abnormalities, to individualize the extent of treatment.

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

Science.gov (United States)

Rodríguez, Amparo; Ezquieta, Begoña; Labarta, José Igancio; Clemente, María; Espino, Rafael; Rodriguez, Amaia; Escribano, Aranzazu

2017-08-01

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

Science.gov (United States)

Mangione, Francesca; Nguyen, Laure; Foumou, Nathalie; Bocquet, Emmanuelle; Dursun, Elisabeth

2018-03-01

Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included. Clefts were classified as right/left unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP) and cleft palate (CP). Dental anomalies were investigated on panoramic radiographs and categorized as agenesis, supernumerary teeth, incisor rotations, impacted canines and shape anomalies. Prevalence and gender distribution of dental anomalies, mean number of affected teeth per patient, agenesis occurrence and location, and coexistence of dental anomalies were analysed by cleft type. 96.0% of patients presented at least one dental anomaly (agenesis 83.8%, incisor rotations 25.7%, shape anomalies 21.6%, impacted canines 18.9%, supernumerary teeth 8.1%). BCLP patients had a higher number of affected teeth, and left UCLP patients had a higher one compared to right UCLP patients. Distribution of inside (45.3%) and outside (54.7%) cleft region agenesis was similar. Adjacent (31.8%) and not adjacent (33.3%) combined dental anomalies were often encountered. Dental anomalies were localized inside as well as outside cleft region and were often associated with each other. BCLP patients were more affected. Early radiographic evaluation allows a comprehensive diagnosis of inside and outside cleft region anomalies, required for the multidisciplinary dental treatment.

Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate.

Science.gov (United States)

Bessell, Alyson; Hooper, Lee; Shaw, William C; Reilly, Sheena; Reid, Julie; Glenny, Anne-Marie

2011-02-16

Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without clefting. In an effort to combat reduced weight for height, a variety of advice and devices are recommended to aid feeding of babies with clefts. This review aims to assess the effects of these feeding interventions in babies with cleft lip and/or palate on growth, development and parental satisfaction. The following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 27 October 2010), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2010, Issue 4), MEDLINE via OVID (1950 to 27 October 2010), EMBASE via OVID (1980 to 27 October 2010), PsycINFO via OVID (1950 to 27 October 2010) and CINAHL via EBSCO (1980 to 27 October 2010). Attempts were made to identify both unpublished and ongoing studies. There was no restriction with regard to language of publication. Studies were included if they were randomised controlled trials (RCTs) of feeding interventions for babies born with cleft lip, cleft palate or cleft lip and palate up to the age of 6 months (from term). Studies were assessed for relevance independently and in duplicate. All studies meeting the inclusion criteria were data extracted and assessed for validity independently by each member of the review team. Authors were contacted for clarification or missing information whenever possible. Five RCTs with a total of 292 babies, were included in the review. Comparisons made within the RCTs were squeezable versus rigid feeding bottles (two studies), breastfeeding versus spoon-feeding (one study) and maxillary plate versus no plate (two studies). No statistically significant differences were shown for any of the primary outcomes when comparing bottle types, although squeezable bottles were less likely to require

Cleft lip and palate repair

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/002979.htm Cleft lip and palate repair To use the sharing features on this ... Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty Patient Instructions Cleft lip and palate repair - discharge Images Cleft lip repair - series References ...

Comparison of dental arch dimensions in models of preschool children with cleft lip/palate repaired by means of surgery alone versus controls.

Science.gov (United States)

Burhan, Ahmad S; Nawaya, Fehmieh R

2016-09-01

Cleft lip and palate (CLP) anomaly is one of the most prevalent congenital defects causing disturbances of dental arch dimensions. This study aimed at investigating differences in these dimensions between preschool children with cleft lip/palate and a matched control group representing healthy individuals with normal occlusion (NO). The sample of this cross-sectional analytical study consisted of 108 plaster models of children aged from 4 to 5.5 years. They were divided into five groups: the cleft lip group, the cleft palate (CP) group, the unilateral cleft lip and palate group, the bilateral cleft lip and palate group, and the NO group. The NO group was used as a control group. All cleft-affected children were treated only with surgery. Dental arch length and widths were measured. The dental arch dimensions of the cleft lip group were nearly similar to those in the controls. Moreover, the mandibular transverse widths of the CP group were close to those in the controls. However, the mandibular arch length and all maxillary dimensions of the CP group were smaller than those in the controls. In the unilateral cleft lip and palate group, the arch lengths in both jaws and the maxillary transverse widths were smaller than those in the controls, whereas the mandibular transverse widths were similar to those in the controls. In the bilateral cleft lip and palate group, the arch lengths in both jaws were close to those in the controls, but both arches were narrower than those in the controls. The various types of CLP were found to be associated with differences in most maxillary and some mandibular arch dimensions. These data can be used for cleft patient counseling and treatment planning.

Short mandible - a possible risk factor for cleft palate with/without a cleft lip

DEFF Research Database (Denmark)

Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær

2014-01-01

Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases...... about 50% per mm decrease in mandibular length. Conclusions A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length....

Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

Science.gov (United States)

Justin, Grant A; Brietzke, Scott E

2017-01-01

  This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.

Science.gov (United States)

Kennedy, David P; Chandler, John W; McCulley, James P

2015-06-01

To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications. Copyright © 2015 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

Current management of congenital branchial cleft cysts, sinuses, and fistulae.

Science.gov (United States)

Goff, Christopher J; Allred, Carly; Glade, Robert S

2012-12-01

Branchial anomalies comprise approximately 20% of pediatric congenital head and neck lesions. This study reviews current literature detailing the diagnosis and management of first, second, third and fourth branchial cysts, sinuses and fistulae. Branchial anomalies remain classified as first, second, third and fourth cysts, sinuses and fistulae. Management varies on the basis of classification. The imaging study of choice remains controversial. Computed tomography fistulography likely best demonstrates the complete course of the tract if a cutaneous opening is present. Treatment of all lesions has historically been by complete surgical excision of the entire tract. Studies of less invasive procedures for several anomalies are promising including sclerotherapy and endoscopic excision of second branchial cysts, and endoscopic cauterization or sclerotherapy at the piriform opening for third and fourth branchial sinuses. An increased risk of complications in children less than 8 years is reported in children undergoing open excision of third and fourth branchial anomalies. Branchial anomalies are common congenital pediatric head and neck lesions but are comprised by several diverse anomalies. Treatment must be tailored depending on which branchial arch is involved and whether a cyst mass or sinus/fistula tract is present.

A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

International Nuclear Information System (INIS)

Kim, Eun Kyung; Ahn, Hyung Kyu

1985-01-01

The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

Energy Technology Data Exchange (ETDEWEB)

Kim, Eun Kyung; Ahn, Hyung Kyu [Department of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

1985-11-15

The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

[Evaluation and treatment of children's laryngeal clefts].

Science.gov (United States)

Chen, C; Tan, L T; Xu, Z M

2018-01-07

Objectives: To provide the experience about the diagnostic process and following management, and to discuss the outcome and predictors in children with laryngeal cleft (LC). Methods: A retrospective case study was conducted at an academic children's hospital. Thirty children were diagnosed as laryngeal cleft between January 2016 and April 2017.Airway evaluations were performed using both flexible and rigid endoscopy, and swallowing evaluations were performed using fiberoptic endoscopic examination of swallowing or modified barium swallow. Results: Of 30 cases, 18 were male and 12 were female, ranging in age from birth to 8 years. Two cases were diagnosed as type 0 LC, and they were offered thickened liquid without medication. Throughout follow-up, they remained asymptomatic and showed no respiratory complications. Nineteen children were diagnosed as type Ⅰ LC. Six of them were significantly improved by anti-reflux therapy and feeding instructions. Four children were concomitant with swallowing dysfunction and/or neuromuscular disorders, and they were given a tracheotomy and routine management. Another 4 children were submitted surgical repair when routine treatment failed, and their symptoms were relieved. Five children were concomitant with larygomalacia, and their symptoms were totally ameliorated by supraglottoplasty. Three children were diagnosed as type Ⅱ LC. Two of them received surgical repair and clinically improved, and the rest one was treated by anti-reflux therapy and still under follow-up. Three children were diagnosed as type Ⅲ LC. One of them was underwent surgical repair and clinically improved. Two children were tracheotomized and treated by anti-reflux therapy. Three cases were diagnosed as type Ⅳ LC at birth and no one survived. Conclusions: Laryngeal cleft is a rare congenital anomaly manifesting with a variety of symptoms, including swallowing disorder, aspirations, dyspnea, stridor and hoarseness. Diagnosis and treatment of laryngeal

Theory of mind deficit in adult patients with congenital heart disease.

Science.gov (United States)

Chiavarino, Claudia; Bianchino, Claudia; Brach-Prever, Silvia; Riggi, Chiara; Palumbo, Luigi; Bara, Bruno G; Bosco, Francesca M

2015-10-01

This article provides the first assessment of theory of mind, that is, the ability to reason about mental states, in adult patients with congenital heart disease. Patients with congenital heart disease and matched healthy controls were administered classical theory of mind tasks and a semi-structured interview which provides a multidimensional evaluation of theory of mind (Theory of Mind Assessment Scale). The patients with congenital heart disease performed worse than the controls on the Theory of Mind Assessment Scale, whereas they did as well as the control group on the classical theory-of-mind tasks. These findings provide the first evidence that adults with congenital heart disease may display specific impairments in theory of mind. © The Author(s) 2013.

Branchial cleft anomalies: CT evaluation

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Seok, Eul Hye; Park, Chan Sup [College of Medicine, Inha University, Seongnam (Korea, Republic of)

1994-04-15

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape.

Branchial cleft anomalies: CT evaluation

International Nuclear Information System (INIS)

Seok, Eul Hye; Park, Chan Sup

1994-01-01

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape

Cleft Lip and Cleft Palate--What to Know and Who Can Help

Science.gov (United States)

Apel, Laura

2008-01-01

Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

Maternal life event stress and congenital anomalies.

Science.gov (United States)

Carmichael, S L; Shaw, G M

2000-01-01

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

Directory of Open Access Journals (Sweden)

D. Wong

2013-01-01

Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

2011-09-15

Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

International Nuclear Information System (INIS)

Wang Guangbin; Shan Ruiqin; Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan

2011-01-01

Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

Cleft Palate Foundation

Science.gov (United States)

... craniofacial journeys. Read the press release here. American Cleft Palate-Craniofacial Association 1504 East Franklin Street, Suite 102 ... order bottles Order ACPA publications © Copyright 2017 American Cleft Palate-Craniofacial Association. Website by Mixer Creative Follow us ...

Maternal Risk Factors Associated with Cleft Lip with or without Cleft Palate: A Review

OpenAIRE

Barrera, Catalina; Mezarobba, Naiara

2016-01-01

Disruptions in the development of the nasal and oral structures lead to cleft palate and cleft lip. There are many different factors that can affect this development such as genetic, mechanical traumas or teratogeny. The oral clefts are one of the most common birth defects worldwide affecting approximately 1 in 700 to 1000 children. The development of oral clefts is multifactorial and affect a significant portion of the population. The study results showed that smoking is the risk factor most...

STRESS – THE RISK FACTOR IN THE LIP AND PALATE CLEFT DEVELOPMENT

Directory of Open Access Journals (Sweden)

Zorica Blazej

2007-12-01

Full Text Available Lip and palate cleft (cheilognathopalatoschisis is most often congenital defect that affects craniofacial region. It is characterized by a difficult clinical presentation.The etiology is multicausal and not yet fully understood. The examination of numerous etiological factors imposed the need to study the role of stress in the development of lip and palate cleft. This is all the more important for the socioeconomic factors that characterized our society in the last years, after bombardment, poverty, higher divorce rate, and more family violence. The aim of this paper was to establish the importance of stressful events and their role in the development of lip and palate cleft. The examination included children born from March 1999 (time of war in this area, till December 2003, as well as their mothers.The study group comprised 96 children with the lip and palate cleft anomaly, and the control one included 142 healthy children. The chosen examinees were not under the influence of other etiological factors, such as heritage. The examination was conducted using a questionnaire containing questions related to stressful situations in the first trimester of pregnancy. The questions were thus formed so as to be clear to mothers of different levels of education, without expert phrases,except in the cases where it was necessary. The statistical differences between the study and control group were determined using Pearson's χ2 test. In the first trimester, the mothers of the study group, in regard to the control group,statistically more often had fears or anxiety (p<0.01, disorganized emotional life(p<0.001, more often phychological harassment (p<0.001, and the presence of any kind of harassment (p<0.001. The presence of stress was also greater in the study group, on the significance borderline in relation to the control group.The stressful situations to which mothers of the study group were exposed are in correlation with the increase of the children

Preoperative Cleft Lip Measurements and Maxillary Growth in Patients With Unilateral Cleft Lip and Palate.

Science.gov (United States)

Antonarakis, Gregory S; Tompson, Bryan D; Fisher, David M

2016-11-01

Maxillary growth in patients with cleft lip and palate is highly variable. The authors' aim was to investigate associations between preoperative cleft lip measurements and maxillary growth determined cephalometrically in patients with complete unilateral cleft lip and palate (cUCLP). Retrospective cross-sectional study. Children with cUCLP. Preoperative cleft lip measurements were made at the time of primary cheiloplasty and available for each patient. Maxillary growth was evaluated on lateral cephalometric radiographs taken prior to any orthodontic treatment and alveolar bone grafting (8.5 ± 0.7 years). The presence of associations between preoperative cleft lip measurements and cephalometric measures of maxillary growth was determined using regression analyses. In the 58 patients included in the study, the cleft lateral lip element was deficient in height in 90% and in transverse width in 81% of patients. There was an inverse correlation between cleft lateral lip height and transverse width with a β coefficient of -0.382 (P = .003). Patients with a more deficient cleft lateral lip height displayed a shorter maxillary length (β coefficient = 0.336; P = .010), a less protruded maxilla (β coefficient = .334; P = .008), and a shorter anterior maxillary height (β coefficient = 0.306; P = .020) than those with a less deficient cleft lateral lip height. Patients with cUCLP present with varying degrees of lateral lip hypoplasia. Preoperative measures of lateral lip deficiency are related to later observed deficiencies of maxillary length, protrusion, and height.

Hydrodynamic flow in a synaptic cleft during exocytosis.

Science.gov (United States)

Shneider, M N; Gimatdinov, R S; Skorinkin, A I; Kovyazina, I V; Nikolsky, E E

2012-01-01

It is shown that exocytosis in a chemical synapse may be accompanied by "microjet" formation due to the overpressure that exists in the vesicles. This mechanism may take place either at complete fusion of a vesicle with the presynaptic membrane or in the so-called kiss-and-run mode of neurotransmitter release. A simple hydrodynamic model of the viscous incompressible flow arising in the synaptic cleft is suggested. The occurrence of hydrodynamic flow (microjet) leads to more efficient transport of neurotransmitter than in the case of classical diffusive transport.

Oral Clefts and Academic Performance in Adolescence

DEFF Research Database (Denmark)

Clausen, Nicola G; Pedersen, Dorthe A; Pedersen, Jacob K

2017-01-01

OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group to ......:   Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded.......OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group...

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

DEFF Research Database (Denmark)

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

2010-01-01

BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least a subg...

Congenital adrenal hyperplasia: Case report.

OpenAIRE

Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

2013-01-01

INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

Psychological issues in cleft lip and cleft palate

OpenAIRE

Sousa Avinash; Devare Shibani; Ghanshani Jyoti

2009-01-01

Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical t...

[Quality of life and its influential factors of children and adolescents with congenital cleft lip and palate].

Science.gov (United States)

Zhou, Meng; Liu, Zong-xiang; Wang, Peng-lai; Liu, Chao

2016-02-01

To investigate the quality of life of children undergoing clef lip or and palate repair as well as the influential factors of the quality of life, and provide theoretical foundation for future studies such as psychological interventions. Totally 164 children and young adolescent patients with cleft lip and palate undergoing maxillofacial surgery and orthodontic treatment in Xuzhou Stomatology Hospital were selected as experimental group, and 102 normal children and young adolescents were selected as control group. Both groups were investigated by general information questionnaire and child and adolescents' quality of life scale (CAQOL). The results were analyzed and the influential factors on quality of life were evaluated by multivariate regression analysis with SPSS 19.0 software package. The overall CAQOL scores and most of the subscale scores (teacher-student relationship, peer relationships, parent-child relationship, self-awareness, physical discomfort, negative emotions, attitude about homework, access to transportation from home, extra curricular activities, self-esteem) in the experimental group were significantly lower compared with the control group (Ppalate category, family income, the main caregivers and residential areas were the important influential factors on children' quality of life. Among them, the type of disease was the most important influential factor (beta=0.260), followed by mother's education level (beta=0.215). The quality of life of children with cleft lip/palate is poor. Patients' scores of CAQOL are closely related with mothers' education level, type of cleft lip/palate, family income, the main caregivers and residential areas.

Introduction to the Congenital Heart Defects: Anatomy of the Conduction System.

Science.gov (United States)

Moore, Jeremy P; Aboulhosn, Jamil A

2017-06-01

The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Risk of oral clefts in children born to mothers taking Topamax (topiramate)Risk of Oral Clefts (Cleft Lip and/or ...

Science.gov (United States)

... Drug Safety and Availability FDA Drug Safety Communication: Risk of oral clefts in children born to mothers ... data that show that there is an increased risk for the development of cleft lip and/or ...

Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications.

Science.gov (United States)

Charmandari, Evangelia; Weise, Martina; Bornstein, Stefan R; Eisenhofer, Graeme; Keil, Margaret F; Chrousos, George P; Merke, Deborah P

2002-05-01

Leptin is secreted by the white adipose tissue and modulates energy homeostasis. Nutritional, neural, neuroendocrine, paracrine, and autocrine factors, including the sympathetic nervous system and the adrenal medulla, have been implicated in the regulation of leptin secretion. Classic congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, impaired development and function of the adrenal medulla, and adrenal hyperandrogenism. To examine leptin secretion in patients with classic CAH in relation to their adrenomedullary function and insulin and androgen secretion, we studied 18 children with classic CAH (12 boys and 6 girls; age range 2-12 yr) and 28 normal children (16 boys and 12 girls; age range 5-12 yr) matched for body mass index (BMI). Serum leptin concentrations were significantly higher in patients with CAH than in control subjects (8.1 +/- 2.0 vs. 2.5 +/- 0.6 ng/ml, P = 0.01), and this difference persisted when leptin values were corrected for BMI. When compared with their normal counterparts, children with CAH had significantly lower plasma epinephrine (7.1 +/- 1.3 vs. 50.0 +/- 4.2, P fasting serum insulin (10.6 +/- 1.4 vs. 3.2 +/- 0.2 microU/ml, P Insulin resistance determined by the homeostasis model assessment method was significantly greater in children with classic CAH than in normal children (2.2 +/- 0.3 vs. 0.7 +/- 0.04, P patients and controls. Gender predicted serum leptin concentrations in controls but not in patients with classic CAH. No association was found between the dose of hydrocortisone and serum leptin (r = -0.17, P = 0.5) or insulin (r = 0.24, P = 0.3) concentrations in children with CAH. Our findings indicate that children with classic CAH have elevated fasting serum leptin and insulin concentrations, and insulin resistance. These most likely reflect differences in long-term adrenomedullary hypofunction and glucocorticoid therapy. Elevated leptin and insulin concentrations in patients

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

Science.gov (United States)

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

2017-10-07

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

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Archwise distraction appliance: A novel approach for developing facial and dental esthetics in cleft lip and palate patients

Directory of Open Access Journals (Sweden)

Nejat Erverdi

2015-01-01

Full Text Available Cleft lip and palate (CLP is defined as a congenital deformity caused by failed fusion of medial and lateral palatine processes during 4-12 th weeks of embryogenesis, resulting in an open communication between oral and nasal cavities. In CLP patients, maxillary hypoplasia, velopharyngeal insufficiency, and alveolar clefts are the major issues that have to be taken care of after labiopalatal reconstruction. Rather than several consecutive operations, such as bone-grafting and orthognathic surgery, alveolar distraction can be a better treatment option in many cases. Archwise Distraction Appliance (AWDA is a rigid, tooth-borne, custom-made appliance that is developed to control the distraction vector with double archwire system. Our experiences show that the AWDA is a successful appliance in cases of distraction osteogenesis. Moreover, alveolar distraction has significant advantages over conventional treatment modalities for CLP patients.

Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

Science.gov (United States)

Dentino, K M; Valstar, A; Padwa, B L

2016-06-01

The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Surgical repair of large cyclodialysis clefts.

Science.gov (United States)

Gross, Jacob B; Davis, Garvin H; Bell, Nicholas P; Feldman, Robert M; Blieden, Lauren S

2017-05-11

To describe a new surgical technique to effectively close large (>180 degrees) cyclodialysis clefts. Our method involves the use of procedures commonly associated with repair of retinal detachment and complex cataract extraction: phacoemulsification with placement of a capsular tension ring followed by pars plana vitrectomy and gas tamponade with light cryotherapy. We also used anterior segment optical coherence tomography (OCT) as a noninvasive mechanism to determine the extent of the clefts and compared those results with ultrasound biomicroscopy (UBM) and gonioscopy. This technique was used to repair large cyclodialysis clefts in 4 eyes. All 4 eyes had resolution of hypotony and improvement of visual acuity. One patient had an intraocular pressure spike requiring further surgical intervention. Anterior segment OCT imaging in all 4 patients showed a more extensive cleft than UBM or gonioscopy. This technique is effective in repairing large cyclodialysis clefts. Anterior segment OCT more accurately predicted the extent of each cleft, while UBM and gonioscopy both underestimated the size of the cleft.

Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

Science.gov (United States)

Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

2015-10-01

Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Clinical Study of Second Branchial Cleft Anomalies.

Science.gov (United States)

Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

2018-03-30

The objective of this study was to review the clinical characteristics and surgical treatment outcomes of second branchial cleft anomalies, and to evaluate the usefulness and accuracy of preoperative fine-needle aspiration cytology (FNAC) in the diagnosis of branchial cleft cysts. A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2010 to December 2016. Among 25 patients with second branchial cleft anomalies, in 23 patients (92.0%), these anomalies presented as cysts, and in the remaining 2 patients (8.0%), these anomalies presented as fistulas. Fine-needle aspiration cytology had a diagnostic sensitivity of 100%, a positive-predictive value of 100%, and accuracy of 100% for diagnosing second branchial cleft cyst. All patients of second branchial cleft anomalies were treated surgically under general anesthesia. No recurrence of second branchial cleft anomalies was observed. Branchial cleft cysts were the most common type of second branchial cleft anomalies. Preoperative FNAC is a useful and accurate method for preoperative evaluation of branchial cleft cysts. Surgical excision of second branchial cleft anomalies is the treatment of choice without any complications and with no recurrence.

Congenital deformity in calves induced by the maternal consumption of lupin

Energy Technology Data Exchange (ETDEWEB)

Shupe, J.L.; Binns, W.; James, L.F.; Keeler, R.F.

1968-01-01

A congenital skeletal deformity called crooked calf syndrome occurs in many of the beef cattle-producing areas of the western United States. This deformity is characterized by arthrogryposis, torticollis, scoliosis, and cleft palate. The condition is non-hereditary, and is due to the consumption of lupin by the dam. The most severe and characteristic deformities are produced between the 40th and 70th days of gestation. Experimental analyses were performed to ascertain the teratogenic effect of lupin plants, lupin and lead, and lead alone upon cattle.

Clinical outcomes of primary palatoplasty in pre-school-aged cleft palate children in Srinagarind hospital: quality of life.

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Pradubwong, Suteera; Mongkholthawornchai, Siriporn; Keawkhamsean, Natda; Patjanasoontorn, Niramol; Chowchuen, Bowornsilp

2014-10-01

Cleft lips and cleft palates are common congenital anomalies, which affects facial appearance, speech, hearing, teeth alignment and other structures. Craniofacial anomalies and speech disorders are crucial problems in the preschool-aged children (5-6 years old), when they start attending school and become more engaged in the community. This condition, which differentiates them from other students, can lead to teasing or mocking which can cause low-self esteem, an inferiority complex, andfoster bad relationships with friends. Missing class in order to receive treatment and other additional care can affect a student's learning, development and overall-quality of life. The purpose of this research was to study the quality of life in preschool-aged cleftpalate children and satisfaction with their level of speech. This was a retrospective, descriptive study. The data were collected by reviewing medical records of patients with cleft lip and cleft palate aged 5-6 years old who underwent operation and treatment with the Tawanchai Center at Srinagarind Hospital. There were 39patients in this study. Data collection was conducted for 5 months (June to October 2013). The research instruments were: (1) General Demographic Questionnaire, (2) Quality of Life Questionnaire with 5 Domains, and (3) the Satisfaction of Speech Questionnaire. The descriptive statistics, percentages and the standard deviation were analyzed in the present study. The findings revealedfamily information pertaining to CLP treatment and the impact it has on consumption, speech training, hearing test, development, dental treatment, communication skills, participation, referral treatment as well as the quality ofcoordinationfor advanced treatment. The present study revealed that all ofthe aforementioned criteria were met at a high level. Moreover the child's sickness had only a moderate impact on family life. In conclusion, the overall satisfaction was at a very high level. It was concluded that the

A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

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Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

2014-10-01

To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

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Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

2009-09-01

The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

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Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

2012-09-01

The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

2017-01-01

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

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

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Emre Pabuçcu

2012-12-01

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

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Incidence of Cleft Lip and Palate in Uganda

NARCIS (Netherlands)

Dreise, Marieke; Galiwango, George; Hodges, Andrew

Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

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Regina Ferreira Rezek

2014-01-01

Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

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RUTHERFORD, DAVID; WESTLAKE, HAROLD

DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

Not All Clefts Are Created Equal: Patterns of Hospital-Based Care Use among Children with Cleft Lip and Palate within 4 Years of Initial Surgery.

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Ligh, Cassandra A; Fox, Justin P; Swanson, Jordan; Yu, Jason W; Taylor, Jesse A

2016-06-01

This study compares hospital-based care and associated charges among children with cleft lip, cleft palate, or both, and identifies subgroups generating the greatest cumulative hospital charges. The authors conducted a retrospective cohort study of cleft lip, cleft palate, or cleft lip and palate who underwent initial surgery from 2006 to 2008 in four U.S. states. Primary outcome was hospital-based care-emergency, outpatient, inpatient-within 4 years of surgery. Regression models compared outcomes and classification tree analysis identified patients at risk for being in the highest quartile of cumulative hospital charges. The authors identified 4571 children with cleft lip (18.2 percent), cleft palate (39.2 percent), or cleft lip and palate (42.6 percent). Medical comorbidity was frequent across all groups, with feeding difficulty (cleft lip, 2.4 percent; cleft palate, 13.4 percent; cleft lip and palate, 6.0 percent; p cleft lip, 1.8 percent; cleft palate, 9.4 percent; cleft lip and palate, 3.6 percent; p cleft palate were most likely to return to the hospital (p cleft lip group, yet comparable among those with cleft palate and cleft lip and palate (p cleft palate cohort (cleft lip, $56,966; cleft palate, $106,090; cleft lip and palate, $91,263; p cleft lip versus cleft palate with or without cleft lip), and age at initial surgery were the most important factors associated with the highest quartile of cumulative hospital charges. Cleft lip and palate children experience a high rate of hospital-based care early in life, with degree of medical comorbidity being a significant burden. Understanding this relationship and associated needs may help deliver more efficient, patient-centered care.

Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

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Meng, Tian; Ma, Lian; Wang, Zhi

2015-10-01

This cross-sectional study aimed to compare subjective assessments among patients with cleft lip and palate (CLP), cleft surgeons, and lay people regarding the soft tissue lateral profile of CLP patients. We also investigated the correlations between subjective assessments and photogrammetric measurements. A total of 150 CLP patients who wished to have treatment for their unattractive appearance were randomly selected. A standard lateral profile color photograph was taken. Panels of three cleft surgeons, ten CLP patients, and ten lay people were selected to be assessors. They rated nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile for each photograph. Three angular measurements (nasal prominence angle, nasolabial angle, and lip angle) were measured for each photograph. Kendall's coefficient of concordance and logistic regression were used for statistical analysis. Kendall's coefficient of concordance of nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile were 0.734, 0.683, 0.828, and 0.747, respectively (p lay people (p lay people have similar attitudes to the appearance of CLP patients. Upper and lower lip esthetics is associated with the assessment of the cleft profile that is provided by CLP patients, cleft surgeons, and lay people. In addition, nasal tip projection is another determining factor for lay people. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Unusual case of cleft hand

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Sahasrabudhe Parag

2007-01-01

Full Text Available We present a case of a six-year-old male child with cleft hand deformity involving the dominant right hand. It was a rare case of atypical cleft hand with no missing tissue but cleft extending to metacarpal level and associated hypoplasia of thumb and index finger. As per Manske′s classification of cleft hand our patient belongs to the Class III variety. There was associated malposition of the index finger with absence of first web space and syndactly of thumb and index finger at the metacarpal level. A modified Snow-Littler procedure was planned. The surgical plan involved closure of cleft, release of thumb and index finger syndactly and reconstruction of the first web space. The functional outcome was good considering hypoplasia of the index finger and thumb. Depending upon the function of the thumb tendon transfers can be planned to augment thumb function at a later date along with correction of rotational deformities of the index and middle finger.

Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

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Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

2014-06-01

The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were

Chromosome evaluation of Angus calves with unilateral congenital cleft lip and jaw (cheilognathoschisis).

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Swartz, H A; Vogt, D W; Kintner, L D

1982-04-01

Two purebred Angus calves with unilateral cleft lip and jaw were karyotyped and anatomically described. Both calves, 1 male and 1 female, were from the same farm and were born in March and April 1980. The defect was most pronounced in the female calf. Both calves exhibited an elevated midline of the hard palate. The female calf also manifested characteristics indicative of proportionate dwarfism. Karyotypes were constructed after a 72-hour culture of peripheral blood. The 2N number was 60 with no apparent chromosome abnormality. The coefficient of relationship between the 2 affected calves was calculated to be 0.78%. The cause of the defect could not be ascertained from the limited data available.

Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

Indian Academy of Sciences (India)

2016-08-26

Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

MSX ₁ gene variant and non-syndromic clefting: association or rejection?

Science.gov (United States)

Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

2014-01-01

Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

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Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

2016-01-01

Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning.

Hearing outcomes in patients with cleft lip/palate.

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Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

2015-03-01

Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

Translation and cultural adaptation of the CLEFT-Q for use in Colombia, Chile, and Spain.

Science.gov (United States)

Tsangaris, Elena; Riff, Karen W Y Wong; Vargas, Federico; Aguilera, Mirta Palomares; Alarcón, Macarena Miranda; Cazalla, Asteria Albert; Thabane, Lehana; Thoma, Achilleas; Klassen, Anne F

2017-11-28

Cleft lip and/or palate (CL/P) is a common congenital craniofacial anomaly that may negatively affect an individual's appearance, health-related quality of life, or speech. In Spain, Colombia, and Chile the overall prevalence of CL/P ranges from 0.53 to 1.59 cases per 1000 live births. Currently, there is no patient-reported outcome (PRO) instrument that is specific for patients with CL/P. The CLEFT-Q is a new PRO instrument developed to measure outcomes of treatment in patients 8 to 29 years of age with CL/P. The aim of this study was to translate and culturally adapt the CLEFT-Q for use in Colombia, Chile, and Spain. The CLEFT-Q was translated from English to 3 Spanish language varieties (Colombian, Chilean, and Spanish (Spain)) and Catalan. Translation and cultural adaptation guidelines set forth by the International Society for Pharmacoeconomics and Outcomes Research were followed. The field- test version of the CLEFT-Q consisted of 13 scales (total 154 items) measuring appearance, health-related quality of life, and facial function. Forward translations revealed 10 (7%) items that were difficult to translate into Chilean, and back translations identified 34 (22%) and 21 (13%) items whose meaning differed from the English version in at least 1 of the 3 Spanish varieties and Catalan respectively. Twenty-one participants took part in cognitive debriefing interviews. Participants were recruited from plastic surgery centres in Bogotá, Colombia (n = 4), Santiago, Chile (n = 7), and Barcelona, Spain (n = 10). Most participants were males (n = 14, 67%) and were diagnosed with CL/P (n = 17, 81%). Participants reported difficulty understanding 1 item in the Colombian, 1 item in the Spanish (Spain), and 11 items from the Catalan version. Comparison of the 3 Spanish varieties revealed 61 (40%) of the 154 items whose wording differed across the 3 Spanish versions. Translation and cultural adaptation processes provided evidence of transferability of

ESTIMATION OF RECURRENCE RISK AND GENETIC COUNSELLING OF FAMILIES WITH EVIDENCE OF ISOLATED (UNSYNDROMIC CLEFT LIP AND PALATE IN SUCEAVA COUNTY, ROMANIA

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Crsitian Tudose

2007-08-01

Full Text Available : Cleft lip and/or palate are the most frequent facial congenital malformations and represent a dramatic situation at birth, which involves important functional, aesthetic, psychological and social impairment that motivates the necessity of a thorough genetic study in the view of genetic counselling. We have studied the families of 100 children with clefts born during the years 1985-1996 in Suceava county and selected from the evidences of the Children Hospital Suceava. The recurrence risk was determined in accordance with the rules of calculation for multifactorial inheritance; it varied between 2 – 5% for the majority of cases (77% which corresponds to a small risk degree; only in 23% of cases the risk varied between 6 – 15% which corresponds to a medium risk degree

Cleft Lip and Palate

Science.gov (United States)

... Cleft Lip or Cleft Palate Print en español Labio leporino y paladar hendido Tilt your head back a bit and look in the mirror. Do you see the way your nose connects to your upper lip? Now open your mouth. Do you see the ...

Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

Science.gov (United States)

Huang, Andrew H; Patel, Kamlesh B; Maschhoff, Clayton W; Huebener, Donald V; Skolnick, Gary B; Naidoo, Sybill D; Woo, Albert S

2015-09-01

To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate. Retrospective, observational study. Referral, urban, children's hospital Participants : Dental models and records of 270 patients were analyzed. None. Angle occlusion classification. The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P = .10). Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

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Astanand Jugessur

Full Text Available 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: 235 case-parent triads.We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P, TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP, TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM.Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting--with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field.

Dental fear in children with a cleft lip and/or cleft Palate

NARCIS (Netherlands)

Vogels, W.E.J.C.; Aartman, I.H.A.; Veerkamp, J.S.J.

2011-01-01

Objective: To assess the level of dental fear in children with a cleft lip and/or palate, to compare this level with that of a normative group testing the hypothesis that children with a cleft lip and/or palate have a higher level of dental anxiety than children from the general population, and to

Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

Science.gov (United States)

Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

2016-12-01

The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

Aspiration pneumonia in patients with cleft palate

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Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il [Hanyang University College of Medicine, Seoul (Korea, Republic of)

2003-03-01

To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group.

Aspiration pneumonia in patients with cleft palate

International Nuclear Information System (INIS)

Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il

2003-01-01

To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

X-linked genes and risk of orofacial clefts

DEFF Research Database (Denmark)

Jugessur, Astanand; Skare, Øivind; Lie, Rolv T

2012-01-01

Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis...

Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

Science.gov (United States)

2012-01-01

Background In 1998, a process of centralisation was initiated for services for children born with a cleft lip or palate in the UK. We studied the timing of this process in England according to its impact on the number of hospitals and surgeons involved in primary surgical repairs. Methods All live born patients with a cleft lip and/or palate born between April 1997 and December 2008 were identified in Hospital Episode Statistics, the database of admissions to English National Health Service hospitals. Children were included if they had diagnostic codes for a cleft as well as procedure codes for a primary surgical cleft repair. Children with codes indicating additional congenital anomalies or syndromes were excluded as their additional problems could have determined when and where they were treated. Results We identified 10,892 children with a cleft. 21.0% were excluded because of additional anomalies or syndromes. Of the remaining 8,606 patients, 30.4% had a surgical lip repair only, 41.7% a palate repair only, and 28.0% both a lip and palate repair. The number of hospitals that carried out these primary repairs reduced from 49 in 1997 to 13, with 11 of these performing repairs on at least 40 children born in 2008. The number of surgeons responsible for repairs reduced from 98 to 26, with 22 performing repairs on at least 20 children born in 2008. In the same period, average length of hospital stay reduced from 3.8 to 3.0 days for primary lip repairs, from 3.8 to 3.3 days for primary palate repairs, and from 4.6 to 2.6 days for combined repairs with no evidence for a change in emergency readmission rates. The speed of centralisation varied with the earliest of the nine regions completing it in 2001 and the last in 2007. Conclusions Between 1998 and 2007, cleft services in England were centralised. According to a survey among patients’ parents, the quality of cleft care improved in the same period. Surgical care became more consistent with current

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

Science.gov (United States)

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-11-01

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Congenital double-level cervical spondylolysis: a case report and review of the literature.

Science.gov (United States)

Yamamoto, Norio; Miki, Takaaki; Nasu, Yoshihisa; Nishiyama, Akihiro; Dan'ura, Tomoyuki; Matsui, Yuzuru; Ozaki, Toshifumi

2017-05-01

We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. A 40-year-old female presented with progressive clumsiness and numbness of the hands. Japanese Orthopedic Association (JOA) score for the cervical spine was 14.5. Plain radiographs of the cervical spine showed bilateral spondylolysis of the articular mass portion, with an adjacent dysplastic change and spina bifida occulta of C4 and C5. Cervical laminoplasty from C4 to C6 was performed. The postoperative course was uneventful, and the patient had some recovery of muscle power and sensation, with JOA score improving to 15.5. At the 8-year follow-up, the patient had no recurrence of symptoms, but did show kyphotic and degenerative changes at the C4/5 and C5/6 level with no apparent instability. This case is a rare presentation of bilateral cervical spondylolysis involving C4 and C5, presumably congenital, accompanied by combined dysplastic changes of the cervical spine, cleft lip, and fibrous dysplasia, possibly through an error involving an ossification center during the embryonic stage.

Parents' age and the risk of oral clefts

DEFF Research Database (Denmark)

Bille, C.; Skytthe, A.; Vach, W.

2005-01-01

BACKGROUND: Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...... as a risk factor. CONCLUSION: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only....

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

DEFF Research Database (Denmark)

Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L

2010-01-01

Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635...

Hypertelorism and orofacial clefting revisited

DEFF Research Database (Denmark)

Weinberg, Seth M.; Leslie, Elizabeth J.; Hecht, Jacqueline T.

2017-01-01

Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using threedimensional (3D) surface...

Cleft Lip and Palate Surgery

Science.gov (United States)

... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery is ... the carefully orchestrated, multiple-stage correctional program for cleft lip and palate patients. The goal is to help restore the ...

Implementing the Brazilian Database on Orofacial Clefts

Directory of Open Access Journals (Sweden)

Isabella Lopes Monlleó

2013-01-01

Full Text Available Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%, cleft palate to 99 (26.8%, and cleft lip to 73 (19.7% cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.

Selected aspects of the oral environment in cleft palate patients – a problem evidently beyond dentists’ scope

Directory of Open Access Journals (Sweden)

Joanna AntoszewskaABCD

2010-12-01

Full Text Available Introduction:The oral cavity is a specialized ecosystem composed of dentition and mucosa exposed to the effects of saliva and gingival liquid. Its structure provides advantageous conditions for various microorganisms, both aerobic streptococci and anaerobic bacilli. The dynamic balance of the oral cavity ecosystem can be threatened by various factors. Lip and palatal clefts are the most frequent disorders in embryonic facial development. The aim of the study was to evaluate whether Streptococcus mutans and Lactobacillus acidophilus and oral cavity hygiene in patients with cleft palate treated orthodontically are significantly different compared with patients without these congenital malformations.Material/Methods:The study group consisted of 200 patients aged 6–21 who were divided into two groups depending on the presence of cleft palate and treatment method. Group C (control consisted of 50 orthodontically untreated patients with occlusal dental defects. The performed studies consisted of 2 parts: the clinical-laboratory part and statistical analysis.Clinical-laboratory partResults:High bacteria levels of Streptococcus mutans and Lactobacillus acidophilus in saliva of patients were comparably frequent between groups, but there were statistically significant differences in inter-group comparisons.Conclusions:As the orthodontic treatment changes the oral environment, control of proper hygienic behavior is an essential element of health education. Introduction of preventive programs is also very important.

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

Science.gov (United States)

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-07-01

Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

Science.gov (United States)

Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

2018-06-01

This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

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Galen W Heyne

Full Text Available The Hedgehog (Hh signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE, clefts of the lip with or without cleft palate (CL/P, and clefts of the secondary palate only (CPO. Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in "non-syndromic" orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug.

Diagnosis and management of classical congenital adrenal hyperplasia.

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Marumudi, Eunice; Khadgawat, Rajesh; Surana, Vineet; Shabir, Iram; Joseph, Angela; Ammini, Ariachery C

2013-08-01

Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis. Copyright © 2013 Elsevier Inc. All rights reserved.

Face facts: Genes, environment, and clefts

Energy Technology Data Exchange (ETDEWEB)

Murray, J.C. [Univ. of Iowa, Iowa City IA (United States)

1995-08-01

Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

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Bindu Kulshreshtha

2012-01-01

Full Text Available Introduction: Children with congenital adrenal hyperplasia (CAH provide us an opportunity to study the clinical effects of androgen excess in humans. We studied the sequence of pubertal development in girls with congenital adrenal hyperplasia initiated on treatment at different ages, to assess the effects of androgen exposure on the Hypothalamic-Pituitary-Ovarian (HPO axis. Materials and Methods: Girls more than 18 years of age, with CAH, on follow-up at this hospital were the subjects for this study. Details of history, physical findings, laboratory evaluation, and medication were noted from their case records and verified from the patients and their / parents, in addition to assessment of their present health status. Result: We studied 24 patients of classical CAH (SW-2, SV-22, average age - 24.5 ± 6.6 years. All had varying degrees of genital ambiguity (Prader stage 3 (n = 13, Prader stage 2 (n = 10, Prader stage 1 (n = 1. Among them were13 girls, who were started on steroids after eight years of age. Girls who received treatment from infancy and early childhood had normal pubertal development (mean age at menarche 11.4 ± 1.7 years. Hirsutism was not a problem among them. Untreated children had progressive clitoral enlargement throughout childhood, developed pubic hair at around three to six years of age, and facial hair between nine and eleven years. Plasma testosterone ranged from 3 to 6 ng / ml prior to treatment. Six of the 13 untreated CAH girls had subtle breast development starting at ages 11 - 16 years and three had spontaneous infrequent vaginal bleeding starting at ages 11 - 17. Steroid supplementation initiated pubertal changes in older girls in two-to-six months′ time. Conclusion: There was a delay in HPO axis maturation (as evidenced by delayed pubertal development in the absence of treatment in girls with CAH. This could be corrected with steroid supplementation.

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

Science.gov (United States)

Kopacek, Cristiane; Prado, Mayara J; da Silva, Claudia M D; de Castro, Simone M; Beltrão, Luciana A; Vargas, Paula R; Grandi, Tarciana; Rossetti, Maria L R; Spritzer, Poli Mara

2018-04-30

To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients. Copyright © 2018. Published by Elsevier Editora Ltda.

Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing.

Science.gov (United States)

Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

2018-01-01

Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

Treatment for Adults (with Cleft Lip and Palate)

Science.gov (United States)

... here What treatment is available for adults with cleft lip and palate? Treatments currently available to infants and children with cleft lip and palate are also available to adults with clefts. Although ...

Epidemiology of non-syndromic cleft lip/palate in the high level natural background radiation areas (HLNRA) of the South west coast of India

International Nuclear Information System (INIS)

Jaikrishan, G.; Sudheer, K.R.; Andrews, V.J.; Koya, P.K.M.; Cheriyan, V.D.; Seshadri, M.

2010-01-01

All consecutive births in selected government hospitals in and around the high level natural background radiation areas (HLNRA) of Kerala were monitored for congenital malformations observable at birth since 1995. The HLNR area, with natural deposits of monazite sand containing thorium (8-10%) and Uranium (0.3%), is a coastal strip of land about 55 km in length and 0.5 km in breadth from Purakkad in the north in Alleppey district to Sakthikulangara in the south of Quilon district and is one among the most prominent background radiation areas of the world. Patchy and non-uniform distribution of Monazite sand causes wide variation in dose ranging from <1 to 45 mGy/year. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. Areas with a mean radiation dose of more than 1.5 mGy/year were treated as HLNR areas and areas with a dose level of 1.5 mGy/year or less were treated as normal level radiation areas (NLNRA). A total of 134,178 newborns were monitored and non-syndromic cleft lip/palate (NSCLP) was detected in 143 newborns (1.07%). Cleft lip with cleft palate (59.4%) was more common than cleft lip (18.2%) or Cleft palate (22.4%) alone and 11.9% had other malformation(s) together with NSCLP. There was no evidence to suggest that NSFC was significantly associated with prevailing dose level of area of mother's residence, maternal age birth, gravida, ethnicity or consanguinity

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...

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 ...

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

Science.gov (United States)

Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

2015-07-01

Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

Ambulatory cleft lip surgery: A value analysis.

Science.gov (United States)

Arneja, Jugpal S; Mitton, Craig

2013-01-01

Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

Characterization of subtle brain abnormalities in a mouse model of Hedgehog pathway antagonist-induced cleft lip and palate.

Science.gov (United States)

Lipinski, Robert J; Holloway, Hunter T; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Cofer, Gary P; Budin, Francois; Everson, Joshua L; Johnson, G Allan; Sulik, Kathleen K

2014-01-01

Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly--a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting.

Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Science.gov (United States)

Ajish, T P; Praveen, V P; Nisha, B; Kumar, Harish

2014-11-01

There are recommendations regarding the total dose of hydrocortisone to be administered in the treatment of classical congenital adrenal hyperplasia (CAH) to achieve the twin objectives of glucocorticoid replacement and control of hyperandrogenism. However, there is evidence gap regarding the breakup, timing and type of the steroid regimen. Efficacy of three different glucocorticoid regimens having the same total dose of steroid, differing in either the timing or type of evening steroid administered, in achieving biochemical control of the disease was assessed. The study was done in 13 prepubertal children with classical CAH over a 6-month period with 2 months devoted to each regimen. We used a prospective cross-over design using 10-15 mg/m(2) total dose of hydrocortisone. Two-fifths of the total dose of hydrocortisone was administered in the morning and one-fifth of the total dose was administered at noon in all the regimens. The regimens differed in the timing of the evening dose of hydrocortisone, 06.00-07.00 pm in regimen 1 and 09.00-10.00 pm in regimen 2. The third regimen had the evening dose of hydrocortisone replaced by an equivalent dose of prednisolone suspension which was administered at 10.00 pm. Serum 17-hydroxyprogesterone and testosterone levels were compared to assess the efficacy of treatment regimens. The three different regimens were found to be similar in their ability to control 17-hydroxyprogesterone and testosterone levels. The percentage of patients with predefined criteria for biochemically controlled disease was similar in all the three regimens. However, there was a trend toward better control of 17-hydroxyprogesterone levels in patients receiving evening dose of prednisolone. There is no significant advantage in administering the hydrocortisone dose late at night in patients with classical CAH.

Economic Valuation of the Global Burden of Cleft Disease Averted by a Large Cleft Charity.

Science.gov (United States)

Poenaru, Dan; Lin, Dan; Corlew, Scott

2016-05-01

This study attempts to quantify the burden of disease averted through the global surgical work of a large cleft charity, and estimate the economic impact of this effort over a 10-year period. Anonymized data of all primary cleft lip and cleft palate procedures in the Smile Train database were analyzed and disability-adjusted life years (DALYs) calculated using country-specific life expectancy tables, established disability weights, and estimated success of surgery and residual disability probabilities; multiple age weighting and discounting permutations were included. Averted DALYs were calculated and gross national income (GNI) per capita was then multiplied by averted DALYs to estimate economic gains. 548,147 primary cleft procedures were performed in 83 countries between 2001 and 2011. 547,769 records contained complete data available for the study; 58 % were cleft lip and 42 % cleft palate. Averted DALYs ranged between 1.46 and 4.95 M. The mean economic impact ranged between USD 5510 and 50,634 per person. This corresponded to a global economic impact of between USD 3.0B and 27.7B USD, depending on the DALY and GNI values used. The estimated cost of providing these procedures based on an average reimbursement rate was USD 197M (0.7-6.6 % of the estimated impact). The immense economic gain realized through procedures focused on a small proportion of the surgical burden of disease highlights the importance and cost-effectiveness of surgical treatment globally. This methodology can be applied to evaluate interventions for other conditions, and for evidence-based health care resource allocation.

Presurgical Unilateral Cleft Lip Anthropometrics and the Presence of Dental Anomalies.

Science.gov (United States)

Antonarakis, Gregory S; Fisher, David M

2015-07-01

To investigate associations between cleft lip anthropometrics and dental anomalies in the permanent dentition in unilateral cleft lip patients. Retrospective cross-sectional study. Children with unilateral clefts of the lip, with or without cleft palate. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The presence of dental anomalies in the permanent dentition was assessed radiographically. The presence of associations between anthropometric lip measurements and prevalence rates of different dental anomalies were determined using logistic regression analyses. In the 122 included patients, the cleft lateral lip element was deficient in height in 80% and in transverse length in 84% of patients. Patients with more deficient cleft side lateral lip height and less deficient cleft side lateral lip transverse length were more likely to present with cleft side maxillary lateral incisor agenesis. On the other hand, patients with a less deficient cleft side lateral lip height and more deficient cleft side lateral lip transverse length were more likely to present with a cleft side supernumerary maxillary lateral incisor. When looking only at incomplete clefts, the cleft side lateral lip transverse length deficiency was more predictive of the presence of supernumerary maxillary lateral incisors (P = .030), while for complete clefts, the cleft side lateral lip height deficiency was more predictive of the presence of maxillary lateral incisor agenesis (P = .035). In patients with unilateral clefts, cleft lip anthropometrics have a predictive role in determining the occurrence of dental anomalies.

Multipl Konjenital Anomalilerin Eşlik Ettiği Bir Prune-Belly Sendromu Olgusu

OpenAIRE

YILDIZ, L.; AYDIN, O.; BORAN, Ç.; KANDEMİR, B.; ALPER, T.

2010-01-01

A Case of Prune-Belly Syndrome Associated with Multiple Congenital Anomalies Abdominal muscle deficiency, urinary tract abnormalities and cryptoorchidism are the three major features of the Prune-belly syndrome. Massive acites and intraabdominal urine accumulation had produced abdominal wall atrophy. A functional or anatomic urethral obstruction may detect on cases. As an addition classic triad of Prune-belly syndrome our case has polydactily, cleft lip and palate. Chromosomal analysis cou...

Evidence-based medicine: cleft palate.

Science.gov (United States)

Chepla, Kyle J; Gosain, Arun K

2013-12-01

After reading this article, the participant should be able to: 1. Describe recent changes in treatment of cleft palate. 2. Compare the efficacy of different surgical treatments. 3. Assess their own knowledge of cleft palate repair. 4. Determine where further individual in-depth study and development are warranted. The Maintenance of Certification in Plastic Surgery series is designed to ensure professional development and measure continued competency within a specialty or subspecialty. The present article provides an evaluation of the interval studies regarding the management of cleft palate with a specific focus on craniofacial growth, speech outcomes, and obstructive sleep apnea since the last Maintenance of Certification in Plastic Surgery article on the subject published in 2010. This purpose of this article is to update plastic and craniomaxillofacial surgeons on recent changes in treatment of cleft palate, provide a means for accurate self-assessment, and guide further individual in-depth study and development.

A community-based survey of visible congenital anomalies in rural Tamil Nadu

Science.gov (United States)

Sridhar, K.

2009-01-01

An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004–05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30%) than other studies. PMID:19884674

A community-based survey of visible congenital anomalies in rural Tamil Nadu

Directory of Open Access Journals (Sweden)

Sridhar K

2009-10-01

Full Text Available An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004-05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30% than other studies.

Loss-of-function mutations in SCN4A> cause severe foetal hypokinesia or 'classical' congenital myopathy

DEFF Research Database (Denmark)

Zaharieva, Irina T; Thor, Michael G; Oates, Emily C

2016-01-01

Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal...

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

Science.gov (United States)

Pierre, Peggy; Despert, François; Tranquart, François; Coutant, Régis; Tardy, Véronique; Kerlan, Véronique; Sonnet, Emmanuel; Baron, Sabine; Lorcy, Yannick; Emy, Philippe; Delavierre, Dominique; Monceaux, Françoise; Morel, Yves; Lecomte, Pierre

2012-12-01

Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue. Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency. When the diagnosis of testicular adrenal rest tumours was sought, good observance of treatment was judged on biological concentrations of 17-hydroxyprogesterone (17OHP), delta4-androstenedione, active renin and testosterone. The results of affected and non-affected subjects were compared. TART was detected in none of the 18 subjects aged 1 to 15years but was detected in 14 of the 27 subjects aged more than 15years. Five patients with an abnormal echography result had no clinical signs. Therapeutic control evaluated at diagnosis of TART seemed less effective when diagnosis was made in patients with adrenal rest tissue compared to TART-free subjects. Various genotypes were observed in patients with or without TART. Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Unusual extension of the first branchial cleft anomaly.

Science.gov (United States)

Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

2006-03-01

First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia.

Science.gov (United States)

Meyer-Bahlburg, Heino F L; Reyes-Portillo, Jazmin A; Khuri, Jananne; Ehrhardt, Anke A; New, Maria I

2017-02-01

Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood. A total of 62 adult women with classical CAH [41 with the salt-wasting (SW) variant and 21 with the simple-virilizing (SV) variant] underwent a qualitative retrospective interview, which focused on the impact of CAH and its medical treatment on many aspects of women's lives. Deductive content analysis was performed on the transcribed texts. The women's accounts of CAH-related stigma were identified and excerpted as vignettes, and the vignettes categorized according to social context, stigma type, and the associated features of the CAH condition. Nearly two-thirds of women with either variant of CAH provided stigma vignettes. The vignettes included all three stigma types, and most involved some somatic or behavioral feature related to sex or gender. Stigma situations were reported for all ages and all social contexts of everyday life: family, peers, colleagues at work, strangers, and the media. We conclude that there is a need for systematic documentation of stigma in intersexuality as a basis for the development of improved approaches to prevention and intervention.

Congenital agenesis of unilateral parotid gland with ipsilateral type I first branchial cleft anomaly: A rare presentation

OpenAIRE

Tripti Maithani; Apoorva Pandey; Seema Acharya

2014-01-01

Aim: To report a rare case of unilateral parotid agenesis with ipsilateral type I first branchial cleft anomaly. Material and methods: A case study with special emphasis on the embryology, outlining the complex developmental process of parotid and branchial arches and highlighting the probable reason for development of such anomalies. Results: The literature states that unilateral parotid agenesis is a rare entity with few reported cases occurring solely or in conjunction with other hea...

Cleft lip and palate surgery in children: Anaesthetic considerations ...

African Journals Online (AJOL)

Background: The Care of cleft patients is very challenging. Team cleft care is usually lacking in many developing countries due to shortage of qualified manpower. This study is aimed at highlighting anaesthetic challenges in the management of cleft in children. Patients and Methods: This was a study of cleft lip and palate ...

Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls

DEFF Research Database (Denmark)

Sundell, Anna Lena; Ullbro, Christer; Marcusson, Agneta

2015-01-01

of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. METHODS: The study group consisted of 133 children with CL(P) (77 subjects aged 5 years and 56 aged 10 years) and 297 non-cleft controls (133 aged 5 years and 164 aged 10......BACKGROUND: Previous studies have suggested that children with oral clefts may have higher caries prevalence in comparison with non-cleft controls but the relative importance of the potential risk factors is not clear. The aim of this study was to compare the caries risk profiles in a group...

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Science.gov (United States)

Goyal, Manisha; Pradhan, Gaurav; Gupta, Sunita; Kapoor, Seema

2015-01-01

The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate. PMID:25684924

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Directory of Open Access Journals (Sweden)

Manisha Goyal

2015-01-01

Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

Science.gov (United States)

Cheng, Homan; Podolsky, Dale J; Fisher, David M; Wong, Karen W; Lorenz, H Peter; Khosla, Rohit K; Drake, James M; Forrest, Christopher R

2018-01-01

Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners. Plastic surgery trainees attended a palatoplasty workshop consisting of a didactic session on cleft palate anatomy and repair followed by a simulation session. Participants completed a procedural confidence questionnaire and palatoplasty knowledge test immediately before and after the workshop. All participants reported significantly higher procedural confidence following the workshop (p cleft palate surgery experience had higher procedural confidence before (p cleft palate experience did not have higher mean baseline test scores than those with no experience (30 percent versus 28 percent; p > 0.05), but did have significantly higher scores after the workshop (61 percent versus 35 percent; p cleft palate simulator as a training tool to teach palatoplasty. Improved procedural confidence and knowledge were observed after a single session, with benefits seen among trainees both with and without previous cleft experience.

Isolated cleft of the ala nasi: A report of seven cases

Directory of Open Access Journals (Sweden)

J Rajesh Jinka

2012-01-01

Full Text Available Craniofacial clefts other than cleft lip & palate are reported to be 1.4 to 4.9 per 100,000 live births. Of these, clefts of nose are usually associated with other clefts. Isolated cleft of Ala is rare, 0.7% of all clefts reported by Monasterio. In an analysis of photographic records of 3,500 consecutive patients with craniofacial clefts including cleft lip & palate registered with us between 1985- 2012 which were accessed through our data base, 13 patients with nasal clefts were identified, seven out of which had Isolated cleft of the Ala. All were treated by a rotation flap of the Ala with good results with the longest follow up of 14Yrs. The authors have emphasised the rarity of the condition and presented a simple surgical procedure for correction. In the opinion of the authors this very simple procedure which can be performed by the junior surgeon gives a good long term result in the management of cleft Ala.

Midline nasal dermoid cyst with Tessier's 0 cleft

OpenAIRE

Guruprasad, Yadavalli; Chauhan, Dinesh Singh

2014-01-01

This is a rare anomaly of midline nasal dermoid cyst (NDC) along with Tessier's 0 cleft. Midline NDCs present most commonly result from aberrant embryological development, and most commonly give rise to bifid nasal deformity resulting in midline cleft of the nose. Craniofacial clefts are among the most disfiguring of all facial anomalies. They exist in a multitude of patterns and with varying degrees of severity. The bifid nose deformity is generally an indicator of Tessier number 0 cleft. We...

Assessment of scar quality after cleft lip closure

NARCIS (Netherlands)

Frans, Franceline A.; van Zuijlen, Paul P. M.; Griot, J. P. W. Don; van der Horst, Chantal M. A. M.

2012-01-01

To assess scar quality after cleft lip repair. The linear scars of patients with cleft lip with or without cleft palate were evaluated in a prospective study using the Patient and Observer Scar Assessment Scale. Linear regression was performed to identify which scar characteristics were important

Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu.

Science.gov (United States)

Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S; Gomathi, Ajeetha; Singh, Karanprakash

2016-04-01

The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely.

CT and MRI of congenital nasal lesions in syndromic conditions

Energy Technology Data Exchange (ETDEWEB)

Ginat, Daniel T. [University of Chicago, Department of Radiology, Chicago, IL (United States); Robson, Caroline D. [Harvard Medical School, Department of Radiology, Boston Children' s Hospital, Boston, MA (United States)

2015-07-15

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. (orig.)

[Risk for congenital malformations in pregnant women exposed to pesticides in the state od Nayarit, Mexico].

Science.gov (United States)

Medina-Carrilo, L; Rivas-Solis, F; Fernández-Argüelles, R

2002-11-01

To measure the association between the use of pesticides and congenital malformations. We studied 279 newborn from mothers living in rural area of Nayarit, a state in the northwest region of México. Cases (n = 93) were defined as newborn with central nervous, face, genital, hip, foot or finger congenital malformations. Controls (n = 186) were newborns without any malformation. We considered as exposure any type of contact with any of the agrochemicals used as pesticides. We evaluated other risk factors such as medical drugs, fever, exposure to radiation, obstetric and family factors, as confoundings. We registered 22 genital malformations, 20 from hip, 19 from the central nervous system, 18 from extremities and 14 cleft-lip or palate. Exposed mothers had high risk of having a malformed child (OR = 3.5, CI95% 2.05-6.34, p pesticides (OR = 6.33, CI95% 2.95-13.7, p pesticides treatment (OR = 3.47, CI95% 1.91-6.33, p pesticides and congenital malformation. This is a public health problem in Nayarit state and in other rural areas with similar exposure to pesticides.

The Epidemiology of Cleft Lip and Palate in Canada, 1998 to 2007.

Science.gov (United States)

Matthews, Jennifer L K; Oddone-Paolucci, Elizabeth; Harrop, Robertston A

2015-07-01

To examine the birth prevalence, gender distribution, and pattern of surgical intervention for clefts in Canada (1998 to 2007). Also to highlight the difficulties associated with studying the epidemiology of clefts using the current data collection mechanisms. Epidemiologic data acquired from the Canadian Institute for Health Information. Population-based study in Canada 1998 to 2007. All live births with an International Classification of Diseases (9th or 10th revision) diagnostic code for cleft palate or for cleft lip with or without cleft palate or with a surgical intervention code for repair of cleft lip or cleft palate. Birth prevalence, gender distribution, and pattern of surgical intervention. There were 3,015,325 live births in Canada (1998 to 2007). The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for cleft palate. The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. Cleft palate was significantly greater in girls; however, the boy to girl ratio decreased from 0.97:1 in 1998 to 0.59:1 in 2007. The median age of repair in Canada from 1998 to 2007 was 4.7 months for cleft lip and 11.6 months for cleft palate. Thirty percent of patients underwent cleft palate repair after age 1. The birth prevalence of cleft palate and cleft lip with or without cleft palate is stable in Canada. An increasing birth prevalence of cleft palate in girls is suggested. The timing of surgical intervention is consistent with current standards. The challenges associated with collecting these data in Canada are discussed.

Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

Science.gov (United States)

Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

2002-08-01

To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

Directory of Open Access Journals (Sweden)

Poornima Kadagad

2011-01-01

Full Text Available Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft.

Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

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Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

2011-01-01

Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft. PMID:22279286

Presurgical cleft lip and palate orthopedics: an overview

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Alzain I

2017-05-01

Full Text Available Ibtesam Alzain,1 Waeil Batwa,2 Alex Cash,3 Zuhair A Murshid2 1Pediatric Dentistry, 2Orthodontic Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia; 3Cleft Lip and Palate Orthodontics, Queen Victoria NHS Foundation Trust, South Thames Cleft Service, London, UK Abstract: Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. Keywords: presurgical orthopedic, nasoalveolar molding, cleft lip and palate

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

Directory of Open Access Journals (Sweden)

Reema Sharma Dhar

2014-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

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Dhar, Reema Sharma; Bora, Amitava

2014-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

Dental Anomalies in a Brazilian Cleft Population.

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Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

2016-11-01

  The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P dental agenesis (P dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

When there is more than a cleft: psychological adjustment when a cleft is associated with an additional condition.

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Feragen, Kristin Billaud; Stock, Nicola Marie

2014-01-01

In spite of studies reporting a relatively high frequency of additional conditions in children with a cleft lip and/or cleft palate (CL/P), almost no research has focused on this clinically important subgroup. The objective of this study was to compare psychosocial adjustment in children with CL/P with and without an additional condition. Cross-sectional data based on routine psychological assessments at age 10 years, with comparisons to national reference groups. Centralized treatment, Norway. Two hundred five children with CL/P (participation rate: 80.1%) from three consecutive birth cohorts. The Strengths and Difficulties Questionnaire (self-report and parent report) and the Child Experience Questionnaire (self-report). Eighty-one children (39.5%) were identified as having at least one condition in addition to the cleft. These children reported significantly more psychosocial difficulties than children with a cleft alone. Differences between specific conditions were minor. Children with a cleft alone (n = 124) reported mean scores that were comparable to those reported by the reference group. There were no differences in adjustment between children with a visible versus a non-visible cleft. The present study highlights the need for research to be conducted in children with CL/P who have additional conditions to provide better knowledge and clinical care for a potentially vulnerable subgroup of children and their parents.

Submucous Clefts

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... Find Local Cleft/Craniofacial Specialists Booklets & Factsheets College Scholarships School-Age Support Resources Connections Conference View More… ... for speech problems, middle ear disease, and swallowing difficulties. However, there are some individuals with a submucous ...

A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

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Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

2017-12-01

The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Novel 3-D Analysis for the Assessment of Cleft Dimensions on Digital Models of Infants With Unilateral Cleft Lip and Palate

DEFF Research Database (Denmark)

Botticelli, Susanna; Pedersen, Thomas Klit; Küseler, Annelise

2018-01-01

OBJECTIVE: To present a 3-D standardized analysis of cleft dimensions. MATERIALS: Thirty-one plaster casts of unilateral cleft lip and palate (UCLP) infants were laser scanned. Landmarks and coordinate system were defined. Linear distances and surfaces were measured, and the ratio between cleft...... and palatal area was calculated (3-D infant cleft severity ratio [3D ICSR]). The digitally measured areas were compared with silicone membranes, adapted to the plaster casts, and analyzed by optic microscopy. MAIN OUTCOME MEASURES: Repeatability, reproducibility, and validity. RESULTS: Bland-Altman plots...

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

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Adams, Ashok; Mankad, Kshitij; Offiah, Curtis; Childs, Lucy

2016-02-01

The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies. • Anomalies of the branchial arches usually present as cysts, sinuses or fistulae. • Second branchial arch anomalies account for approximately 95 % of cases. • There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations. • Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies. • Surgical excision of the cyst or tract is the most common curative option.

Gerbode defect and multivalvular dysfunction: Complex complications in adult congenital heart disease.

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Ruivo, Catarina; Guardado, Joana; Montenegro Sá, Fernando; Saraiva, Fátima; Antunes, Alexandre; Correia, Joana; Morais, João

2017-07-01

We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect. The authors aim to discuss the diagnostic challenge of adult CHD, namely the key role of TEE on septal defects and valve regurgitations description. © 2017, Wiley Periodicals, Inc.

Magnetic resonance imaging of cleft palate

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Naito, Yasushi; Tasaka, Yasuyuki; Honjo, Iwao; Nishimura, Kazumasa; Nakano, Yoshihisa

1987-03-01

Magnetic resonance imaging (MRI) of the nasopharynx and the eustachian tube was performed in five patients with cleft palate and compared with the results of those without this anomaly. Various degrees of deformity of the eustachian tube cartilage were found in cleft palate patients. The levator veli palatini muscles were situated more laterally in cleft palate patients than in normal subjects. Also, changes in the position of these muscles after palatoplasty were clearly depicted by MRI. Besides several autopsy reports, this is the first demonstration of the characteristic anomaly around the eustachian tube by a non-invasive method.

Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate.

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Adetayo, Oluwaseun; Ford, Rachel; Martin, Mark

2012-01-01

The goals of this study were to delineate the protocols employed for managing patients with cleft lip and palate deformities, delineate the challenges facing practitioners and patients, and to determine the patient and physician barriers to cleft care delivery in the region. Survey questionnaires were administered to practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP), which took place in Ibadan, Nigeria, West Africa from February 4-7, 2007. The conference included 225 participants, representing 17 African countries Protocols for repair of cleft lip and palate deformities were varied, with Millard's and von Langenbeck's techniques being the preferred approach for the management of cleft lip and palate deformities, respectively. A large proportion of providers have limited access to core cleft care supporting teams, especially speech language pathologists, orthodontists, and audiologists. Several challenging barriers to cleft care were also identified at both the institutional and individual levels and are reported. Geographic separation in Africa presents a similar challenge due to isolationism as it does to surgeons in Europe. Specific to Africa are the increased barriers to care, and economic and financial hardship at various levels. A focus on funding, team building, infrastructural support, and patient education appear to be crucial in improving the care and lives of children with facial clefts in Africa.

A comparative study of prelinguistic vocalizations in two groups of cleft toddlers and a non-cleft group

DEFF Research Database (Denmark)

Willadsen, Elisabeth; Enemark, Hans

2000-01-01

. The results of this investigation were compared to results previously reported for 19 children with cleft palate and 19 noncleft children at the age of 13 months. The children with clefts in that study received a two-stage palatal surgery. This surgical procedure was formerly used at our center and included...... children in the comparison group. Both groups of subjects with clefts had significantly fewer plosives in their contoid inventory than the noncleft group, and there was no difference regarding place of articulation between the group that received delayed closure of the hard palate and the noncleft group.......Objective: This study examined the prelinguistic contoid (consonant-like) inventories of 14 children with unilateral cleft lip and palate (C-UCLP) at 13 months of age. The children had received primary veloplasty at 7 months of age and closure of the hard palate was performed at 3–5 years...

Exposure to air pollution and noise from road traffic and risk of congenital anomalies in the Danish National Birth Cohort

DEFF Research Database (Denmark)

Pedersen, Marie; Garne, Ester; Hansen-Nord, Nete

2017-01-01

BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish...... associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). CONCLUSIONS: Residential...... road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies....

First branchial cleft anomalies: avoiding the misdiagnosis.

Science.gov (United States)

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

2013-07-01

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

Recruiting to cohort studies in specialist healthcare services: Lessons learned from clinical research nurses in UK cleft services.

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Zucchelli, Fabio; Rumsey, Nichola; Humphries, Kerry; Bennett, Rhiannon; Davies, Amy; Sandy, Jonathan; Stock, Nicola Marie

2018-03-01

To explore the experiences of clinical research nurses recruiting patients in a large specialist care-based cohort study. Longitudinal studies are vital to better understand the aetiology and moderators of health conditions. This need is especially salient for congenital conditions, such as cleft lip and/or palate, where establishing large, comprehensive data sets from birth is vital to improve understanding and to inform interventions. Various barriers exist in recruiting patients to large cohort studies. The role of clinical research nurses embedded within health settings has grown over past decades to facilitate data collection, yet challenges remain. Qualitative descriptive study. Individual semi-structured interviews with 12 clinical research nurses based in 10 National Health Service cleft services across the UK, recruiting to the Cleft Collective Birth Cohort Study. Of seven emergent themes, three highlighted challenges to recruiting patients, another three described facilitative factors, and one theme overlapped challenges and facilitators. Challenges included the life circumstances of potential participants; language barriers; and limited clinical research nurse time for study. Facilitative factors included integrating research into clinical practice; patient information shared with clinical research nurses; and support from the university-based research study team. The theme "Method of data collection" related to both challenges and facilitators. The qualitative data from clinical research nurses recruiting to a large birth cohort study provide helpful practical detail for specialist healthcare teams, specialist nurses, clinical research nurses and researchers looking to optimise recruitment and data collection in longitudinal studies. The findings suggest the importance of specialist clinical services and research study teams cooperating to embed research into everyday clinical practice, without compromising care. This should facilitate patients

Orthognathic surgery in cleft patients.

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Phillips, John H; Nish, Iain; Daskalogiannakis, John

2012-03-01

After studying this article, the participant should be able to: 1. Identify the skeletal changes in the cleft patient that necessitate surgery. 2. Describe the orthodontic principles that precede surgical treatment. 3. Demonstrate the surgical principles involved in cleft orthognathic surgery and how to avoid common pitfalls particular to cleft orthognathic surgery. 4. Anticipate when dentoalveolar distraction can help in the treatment of problems not easily treated with conventional orthognathic techniques. This CME article covers the basic multidisciplinary approach to the treatment of patients requiring a combined orthodontic orthognathic approach to their skeletally based malocclusion. The dentoskeletal abnormalities are described for these patients, as are the fundamental orthodontic principles in the presurgical treatment of these patients. The basic surgical principles are discussed in general, and the reader is provided with advice on avoiding common pitfalls. Specific attention is given to the more recent advances in dentoalveolar distraction in cases of large defects that would have been difficult to treat using conventional orthognathic surgery. Videos are provided to illustrate the general principles in treating the cleft orthognathic patient and to illustrate the treatment of large defects using dentoalveolar distraction.

Simulating clefts in pumpkin balloons

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Baginski, Frank; Brakke, Kenneth

2010-02-01

The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

Changing lifestyles and oral clefts occurrence in Denmark

DEFF Research Database (Denmark)

Bille, Camilla; Knudsen, Lisbeth B.; Christensen, Kaare

2005-01-01

; furthermore, smoking among pregnant women decreased considerably. Design and settings There are few places in which ecological studies of oral clefts are possible. Denmark provides a particularly good setting for this kind of study, due to a high ascertainment and a centralized registration of cleft cases...... through the last 65 years. Participants Cleft occurrence in Denmark 1936 to 1987 has previously been reported. Here we extend the study to include all live-born children with oral clefts born in Denmark in 1988 throguh 2001. Among a total of 992,727 live births 1332 children with CL(P) were born during...

Lateral cervical cleft: a previously unreported anomaly resulting from incomplete disappearance of the second pharyngeal (branchial) cleft.

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Gürsoy, M H; Gedikoğlu, G; Tanyel, F C

1999-03-01

The authors present a 2-year-old boy with a skin defect located in the right lateral side of the neck. They suggest the defect is a partial failure of disappearance of the second pharyngeal (branchial) cleft and propose a name of lateral cervical cleft.

Psychosocial functioning in adults with congenital craniofacial conditions.

Science.gov (United States)

Roberts, R M; Mathias, J L

2012-05-01

To examine the psychosocial functioning of adults with congenital craniofacial conditions relative to normative data. Single sample cross-sectional design. The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, which is one of the main craniofacial treatment centers in Australia. Adults (N  =  93) with congenital craniofacial conditions (excluding cleft lip/palate) who were treated in the Australian Craniofacial Unit. All participants completed self-report scales assessing health-related quality of life (SF-36); life satisfaction, anxiety, and depression (HADS); self-esteem (Rosenberg); appearance-related concerns; perceived social support; and social anxiety. Overall, participants were very similar in psychosocial function to the general population. However, adults with craniofacial conditions were less likely to be married and have children (females), were more likely to be receiving a disability pension, and reported more appearance-related concerns and less social support from friends. They also reported more limitations in both their social activities, due to physical or emotional problems, and usual role activities, because of emotional problems, as well as poorer mental health. These results give cause to be very positive about the long-term outcomes of children who are undergoing treatment for craniofacial conditions, while also identifying specific areas that interventions could target.

The second branchial cleft fistula.

Science.gov (United States)

Maddalozzo, John; Rastatter, Jeffrey C; Dreyfuss, Heath F; Jaffar, Reema; Bhushan, Bharat

2012-07-01

To review the surgical anatomy and histopathology of second branchial cleft fistulae. Retrospective study of patients treated for second branchial cleft fistulae at a tertiary care pediatric hospital. The senior author noted anatomic and histologic features of second branchial cleft fistulae, not previously described. Tertiary care children's hospital. Retrospective examination of 28 patients was conducted who were operated upon for second branchial cleft fistula. Data collected included age at surgery, initial presentation, imaging characteristics prior to surgery, laterality of the fistula tract, pathology results and follow-up data. Twenty-eight patients met the criteria for inclusion. Three patients (11%) had bilateral fistulae. 11 (39%) were male and 17 (61%) were female. 23 (74.2%) tracts were lined with ciliated columnar epithelium, 3 (9.7%) had cuboidal epithelium, and 5 (16.7%) had squamous epithelium. Nineteen (61.3%) tracts contained salivary tissue. Of the unilateral fistula tracts, 25 (100%) were on the right side. Of the 3 patients with bilateral lesions, 2 (66%) had associated branchio-oto-renal syndrome (BORS). Second branchial cleft fistulae are rare. They are usually right-sided. If bilateral fistulae are present, one should consider an underlying genetic disorder. The histology of the fistulae mostly demonstrates ciliated columnar epithelium with the majority of specimens showing salivary tissue. There is a clear association with the internal jugular vein (IJV). Dissection should continue until superior to the hyoid bone, ensuring near complete surgical dissection and less risk of recurrence. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

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Blanton, S.H. [Univ. of Virginia, Charlottesville, VA (United States); Malcolm, S.; Winter, R. [Institute of Child Health, London (United Kingdom)] [and others

1996-01-01

Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, found evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries

Science.gov (United States)

Riff, Karen WY Wong; Longmire, Natasha M.; Albert, Asteria; Allen, Gregory C.; Aydin, Mustafa Asim; Baker, Stephen B.; Cano, Stefan J.; Chan, Andrew J.; Courtemanche, Douglas J.; Dreise, Marieke M.; Goldstein, Jesse A.; Goodacre, Timothy E.E.; Harman, Karen E.; Munill, Montserrat; Mahony, Aisling O.; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L.; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S.; Vargas, Federico; Forrest, Christopher R.

2018-01-01

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8–29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8–29 years of age with cleft lip and/or palate. PMID:29661814

Maternal smoking in pregnancy and risk for congenital malformations: results of a Danish register-based cohort study.

Science.gov (United States)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K; Jensen, Allan

2014-08-01

To examine the association between maternal smoking during pregnancy and risk for congenital malformations. Population-based prospective cohort study. Denmark. A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. Groups of congenital malformations. Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

Risk of Oral Clefts in Twins

DEFF Research Database (Denmark)

Grosen, Dorthe; Bille, Camilla; Petersen, Inge

2011-01-01

and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...

Variations in Velopharyngeal Structure in Adults With Repaired Cleft Palate.

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Perry, Jamie L; Kotlarek, Katelyn J; Sutton, Bradley P; Kuehn, David P; Jaskolka, Michael S; Fang, Xiangming; Point, Stuart W; Rauccio, Frank

2018-01-01

The purpose of this study was to examine differences in velopharyngeal structures between adults with repaired cleft palate and normal resonance and adults without cleft palate. Thirty-six English-speaking adults, including 6 adults (2 males and 4 females) with repaired cleft palate (M = 32.5 years of age, SD = 17.4 years) and 30 adults (15 males and 15 females) without cleft palate (M = 23.3 years of age, SD = 4.1 years), participated in the study. Fourteen velopharyngeal measures were obtained on magnetic resonance images and compared between groups (cleft and noncleft). After adjusting for body size and sex effects, there was a statistically significant difference between groups for 10 out of the 14 velopharyngeal measures. Compared to those without cleft palate, participants with repaired cleft palate had a significantly shorter hard palate height and length, shorter levator muscle length, shorter intravelar segment, more acute levator angles of origin, shorter and thinner velum, and greater pharyngeal depth. Although significant differences were evident in the cleft palate group, individuals displayed normal resonance. These findings suggest that a wide variability in velopharyngeal anatomy can occur in the presence of normal resonance, particularly for those with repaired cleft palate. Future research is needed to understand how anatomic variability impacts function, such as during speech.

Assessment of nostril symmetry after primary cleft rhinoplasty in patients with complete unilateral cleft lip and palate

NARCIS (Netherlands)

Reddy, S.G.; Devarakonda, V.; Reddy, RR

2013-01-01

The aim of this study was to assess the nostril symmetry following primary cleft rhinoplasty done with either a dorsal onlay or columellar strut graft in patients with non-syndromic complete unilateral cleft lip and palate. In this retrospective study 30 consecutive patients treated with autogenous

Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

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Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

2015-01-01

To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

[Double second branchial cleft anomaly].

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Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

2011-01-01

Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

Swallowing function after laryngeal cleft repair: more than just fixing the cleft.

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Osborn, Alexander J; de Alarcon, Alessandro; Tabangin, Meredith E; Miller, Claire K; Cotton, Robin T; Rutter, Michael J

2014-08-01

To evaluate and describe the swallowing function in children after laryngeal cleft repair. Ten-year (2002-2012) retrospective chart review. Academic tertiary care pediatric otolaryngology practice. Records of 60 children who had surgical repair of laryngeal cleft (ages 2 weeks-14 years) and postoperative functional endoscopic evaluation of swallowing or videofluoroscopic swallow studies were examined retrospectively. Twenty-nine children had one postoperative swallow evaluation, 19 children had two, 4 children had three, 5 children had four, and 3 children had five. Median time to the first evaluation was 10.8 weeks (interquartile range [IQR]: 36.5, 231). On the final swallow evaluation, 34 (57%) children demonstrated normal swallowing parameters, 12 (20%) children showed penetration, and 14 (23%) children showed aspiration. Forty-three (72%) children were able to take everything by mouth normally or with minor behavioral modifications, 11 (18%) children required thickened fluids, and six (10%) children were kept nil per os (NPO). Mean improvement on the penetration-aspiration (pen-asp) scale was 2.13. On multivariable analysis, neurodevelopmental issues and gastronomy tube use were associated with the need for NPO status. Despite a high rate of surgical success, a substantial minority of children have persistent swallowing dysfunction after laryngeal cleft repair. Swallowing dysfunction after repair is multifactorial and arises from concomitant neurologic, anatomic, or other comorbidities that contribute to oropharyngeal and pharyngeal dysphagia. Based on our results, we recommend a testing schedule for postoperative swallowing evaluations after cleft repair. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

[A retrospective study of orthodontic treatment of children with clefts].

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Brin, I; Bar-Abudi, R; Abed, Y; Ben-Bassat, Y; Harari, D; Zilberman, Y

2003-04-01

To evaluate the population of cleft patients treated in a Department of Orthodontics and the types of treatment modalities provided. Demographic, cleft related and treatment related data existing in the patients' files were supplemented by questionnaires. Comparisons were conducted among 3 cleft groups: cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). The response rate was 36% (n = 152). The distribution of the patients in the 3 cleft groups, the sidedness, the male predominance and association with additional anomalies were similar to the reports in the literature. Most of the patients were the 3rd born (or more) and were of normal birth weight. Consanguity in the cleft families was at least 2.5 times more prevalent than that of the Israeli population and 30% reported on additional cleft in the family. Low birth weight and additional anomalies were found mainly in the CP group. Orthodontic involvement spanned 3 developmental periods: immediate postnatal presurgical treatment, phase I between the ages 6-8 years and full orthodontic treatment at a later age. Up to the age of 5 years only one lip operation was performed for 60% of the lip-affected children and one palate operation for 65% of the palate affected patients. 1. The distribution of the various cleft-related parameters in this retrospective study was similar to the findings in the literature. 2. The high prevalence of additional anomalies found emphasizes the need for a thorough examination of the cleft babies. 3. Orthodontic treatment was rendered in one and two phase protocols in addition to immediate postnatal pre-surgical intervention.

[Morphological classification and velopharyngeal function analysis of submucous cleft palate patients].

Science.gov (United States)

Heng, Yin; Chunli, Guo; Bing, Shi; Yang, Li; Jingtao, Li

2016-10-01

To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. Among the included cases, 96 (34.78%) were presented as velopharyngeal competence (VPC), 151 (54.71%) as velopharyngeal insufficiency (VPI), and 29 (10.51%) as marginal VPI (MVPI). Eighty cases (28.99%) also demonstrated cleft lip deformity, and 196 cases (71.01%) were merely submucous cleft palate. Compared with patients with submucous cleft palate only, those with cleft lips exhibited higher rates of complete velopharyngeal closure. The pathological spectrum of submucous cleft palate varied significantly. Only 103 (37.32%) cases met all the three diagnostic criteria proposed by Calnan. Given that the velopharyngeal closure rate varies among the subgroups, the factors analyzed in this study should be considered in the personalized manage-ment of submucous cleft palate.

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

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Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-09-01

Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

Cervical vertebral maturation of female children with orofacial clefts.

Science.gov (United States)

Sun, Ling; Li, Wei Ran

2013-09-01

Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

Dental Care for a Child with Cleft Lip and Palate

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... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Dental Care for a Child with Cleft Lip and ... submenu What We Do Cleft & Craniofacial Educational Materials Dental Care for a Child with Cleft Lip and ...

First branchial cleft anomaly, a case for misdiagnosis.

Science.gov (United States)

Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

2004-01-01

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

An undescribed first branchial cleft anomaly.

Science.gov (United States)

Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

2003-06-01

A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

Secondary bone grafting for alveolar cleft in children with cleft lip or cleft lip and palate

NARCIS (Netherlands)

Guo, J.; Li, C.; Zhang, Q.; Wu, G.; Deacon, S.A.; Chen, J.; Hu, H.; Zou, S.; Ye, Q.

2011-01-01

BACKGROUND: Secondary alveolar bone grafting has been widely used to reconstruct alveolar cleft. However, there is still some controversy. OBJECTIVES: To compare the effectiveness and safety of different secondary bone grafting methods. SEARCH STRATEGY: The final electronic and handsearches were

Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

Science.gov (United States)

Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

2011-11-01

One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, Pmalformations (Pmalformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

Variation among cleft centres in the use of secondary surgery for children with cleft palate: a retrospective cohort study

Science.gov (United States)

Sitzman, Thomas J; Hossain, Monir; Carle, Adam C; Heaton, Pamela C; Britto, Maria T

2017-01-01

Objectives To test whether cleft centres vary in their use of secondary cleft palate surgery, also known as revision palate surgery, and if so to identify modifiable hospital factors and surgeon factors that are associated with use of secondary surgery. Design Retrospective cohort study. Setting Forty-three paediatric hospitals across the USA. Patients Children with cleft lip and palate who underwent primary cleft palate repair from 1999 to 2013. Main outcome measures Time from primary cleft palate repair to secondary palate surgery. Results We identified 4939 children who underwent primary cleft palate repair. At 10 years after primary palate repair, 44% of children had undergone secondary palate surgery. Significant variation existed among hospitals (ppalate repair before 9 months of age was associated with an increased hazard of secondary palate surgery (initial HR 6.74, 95% CI 5.30 to 8.73). Postoperative antibiotics, surgeon procedure volume and hospital procedure volume were not associated with time to secondary surgery (p>0.05). Of the outcome variation attributable to hospitals and surgeons, between-hospital differences accounted for 59% (ppalate surgery exists depending on a child’s age at primary palate repair and the hospital and surgeon performing their repair. Performing primary palate repair before 9 months of age substantially increases the hazard of secondary surgery. Further research is needed to identify other factors contributing to variation in palate surgery outcomes among hospitals and surgeons. PMID:29479567

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

Science.gov (United States)

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

2015-03-01

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

Presurgical nasoalveolar moulding in unilateral cleft lip and palate

Directory of Open Access Journals (Sweden)

Mohammed Zuhaib

2016-01-01

Full Text Available Context: Presurgical nasoalveolar moulding (PNAM is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the effi cacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1 To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM. (2 To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM. (3 To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, signifi cant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle

Maxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palate.

NARCIS (Netherlands)

Latief, B.S.; Lekkas, C.; Kuijpers, M.A.R.

2010-01-01

OBJECTIVES: To study maxillary arch width in adult patients with bilateral cleft lip and alveolus (BCLA) or with complete bilateral cleft lip and palate (BCLP), who have not had any surgery. SETTING AND SAMPLING POPULATION: Eighteen patients with BCLA, 13 patients with BCLP, and 24 controls from

Cross-linguistic perspectives on speech assessment in cleft palate

DEFF Research Database (Denmark)

Willadsen, Elisabeth; Henningsson, Gunilla

2012-01-01

. Finally, the influence of different languages on some aspects of language acquisition in young children with cleft palate is presented and discussed. Until recently, not much has been written about cross linguistic perspectives when dealing with cleft palate speech. Most literature about assessment......This chapter deals with cross linguistic perspectives that need to be taken into account when comparing speech assessment and speech outcome obtained from cleft palate speakers of different languages. Firstly, an overview of consonants and vowels vulnerable to the cleft condition is presented. Then......, consequences for assessment of cleft palate speech by native versus non-native speakers of a language are discussed, as well as the use of phonemic versus phonetic transcription in cross linguistic studies. Specific recommendations for the construction of speech samples in cross linguistic studies are given...

[Fourth branchial cleft deformity with skin orifice: a series of 10 cases].

Science.gov (United States)

Huang, S L; Zhang, B; Chen, L S; Liang, L; Luo, X N; Lu, Z M; Zhang, S Y

2016-10-07

Objective: To report rare cases of congenital neck cutaneous sinus with an orifice near the sternoclavicular joint and to investigate their origins and managements. Methods: A total of ten patients with congenital neck cutaneous sinus having an orifice near the sternoclavicular joint treated in the Guangdong General Hospital from January 2010 to June 2015 were retrospectively analyzed. Results: There four boys and six girls, aging from 11 months to 96 months with an average of 33.4 months, and they had a common feature showing a congenital cutaneous sinus with an orifice near sternoclavicular joint. Discharge of pus from the orifice or abscess formation was commonly seen soon after infection. With bacteriological study, staphylococcus aureus was positive in five cases and klebsiella pneumonia in a case. Another orifice of fistula/sinus was not depicted in pyriform with barium swallow X-ray in five cases Ultrasound studies of three cases demonstrated anechoic (i.e., nearly black) and solid-cystic lesion near sternoclavicular joint with posterior acoustic enhancement. Magnetic resonance imaging (MRI) showed isointensity of the lesion on T1 and T2 weighted images with heterogeneous enhancement and a close relationship with sternoclavicular joint. All patients underwent laryngoscopic examination, which showed no orifice of sinus in pyriform at same side. Surgical resection of fistula/sinus was performed in all cases. The lengths of the fistula varied from 5 mm to 22 mm with an average of 11 mm. Postoperative pathological examination showed all specimens were accordance with fistula. No complications were noticed. Recurrence was not observed in the cases by following-up of 6 months to 70 months (median: 33 months). Conclusion: Congenital neck cutaneous sinus with orifice near the sternoclavicular joint maybe a special clinical phenotype of the fourth branchial cleft sinus with skin orifice in cervicothoracic junction. Differential diagnoses between low cervical diseases

Dental anomalies in different cleft groups related to neural crest developmental fields contributes to the understanding of cleft aetiology

DEFF Research Database (Denmark)

Riis, Louise Claudius; Kjær, Inger; Mølsted, Kirsten

2014-01-01

OBJECTIVE: To analyze dental deviations in three cleft groups and relate findings to embryological neural crest fields (frontonasal, maxillary, and palatal). The overall purpose was to evaluate how fields are involved in different cleft types. DESIGN: Retrospective audit of clinical photographs...

Oral clefting in china over the last decade: 205,679 patients.

Science.gov (United States)

Kling, Rochelle R; Taub, Peter J; Ye, Xiaoqian; Jabs, Ethylin Wang

2014-10-01

China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing.

The characteristics and distribution of dental anomalies in patients with cleft.

Science.gov (United States)

Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

2011-01-01

Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

Self-image perception of 171 children and adolescents with cleft lip and palate from 22 countries.

Science.gov (United States)

Abd-Elsayed, Alaa A; Delgado, Sergio V; Livingstone, Morgan

2013-01-01

Cleft lip (CL) and cleft palate (CP) are among the most common congenital deformities of the head and neck. They are associated with many problems, physical and psychological. We describe 171 children and adolescents with CL/CP from 22 countries who were asked to draw their faces in a self-image perception drawing 2 hours before surgery to repair their deformities. The aim of the study was to explore whether children and adolescents with CL and CP perceived themselves as deformed when given the opportunity to draw their faces before surgery to repair their deformities. Children were asked to lie down on a large piece of paper to have their body outline traced. Subsequently, the children were asked to draw their faces within the outline. All of the children included in this study drew their faces with normal mouths. None of the 171 patients with CL/CP drew their deformity when asked to draw their faces; the reasons are not clear. The children may have wanted to compensate for their disability with the constructive use of fantasy as they anticipated the surgery to repair their CL/CP. An additional hypothesis is that the children felt the need to draw an image that they knew represented their parents' desires.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

Science.gov (United States)

Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

2017-08-24

Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with previews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Mothers' experiences when their infants were diagnosed with cleft ...

African Journals Online (AJOL)

Traditionally the diagnosis of cleft lip and palate was made at birth or soon thereafter, but modern technology has led to the identification of cleft lip prenatally. The aim of this study was to describe 16 mothers' experiences of pre- and postnatal diagnosis of their infants' cleft lip and palate, and to develop clinical guidelines for ...

Smile Train: The ascendancy of cleft care in India

Directory of Open Access Journals (Sweden)

Singh Subodh

2009-10-01

Full Text Available Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population.

Craniofacial morphology in complete unilateral cleft lip and palate patients consecutively treated with 1-stage repair of the cleft.

NARCIS (Netherlands)

Fudalej, P.S.; Surowiec, Z.; Offert, B.; Dudkiewicz, Z.; Katsaros, C.

2010-01-01

OBJECTIVE: To retrospectively evaluate the craniofacial morphology of children with a complete unilateral cleft lip and palate treated with a 1-stage simultaneous cleft repair performed in the first year of life. METHODS: Cephalograms and extraoral profile photographs of 61 consecutively treated

Type II first branchial cleft anomaly.

Science.gov (United States)

Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

2013-01-01

First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

Dental anomalies associated with cleft lip and palate in Northern Finland.

Science.gov (United States)

Lehtonen, V; Anttonen, V; Ylikontiola, L P; Koskinen, S; Pesonen, P; Sándor, G K

2015-12-01

Despite the reported occurrence of dental anomalies of cleft lip and palate, little is known about their prevalence in children from Northern Finland with cleft lip and palate. The aim was to investigate the prevalence of dental anomalies among patients with different types of clefts in Northern Finland. Design and Statistics: patient records of 139 subjects aged three years and older (with clefts treated in Oulu University Hospital, Finland during the period 1996-2010 (total n. 183) were analysed for dental anomalies including the number of teeth, morphological and developmental anomalies and their association with the cleft type. The analyses were carried out using Chi-square test and Fisher's exact test. Differences between the groups were considered statistically significant at p values dental anomaly was detected in 47% of the study population. Almost one in three (26.6%) subjects had at least one anomaly and 17.9% had two or three anomalies. The most common type of anomaly in permanent teeth were missing teeth followed by supernumerary teeth. Supernumerary teeth were significantly more apparent when the lip was involved in the cleft compared with palatal clefts. Missing teeth were less prevalent among those 5 years or younger. The prevalence of different anomalies was significantly associated with the cleft type in both age groups. Dental anomalies are more prevalent among cleft children than in the general population in Finland. The most prevalent anomalies associated with cleft were missing and supernumerary teeth.

Growth hormone deficiency in cleft lip and palate patients

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Shahin AbdollahiFakhim

2015-11-01

Full Text Available Introduction: Failure to thrive (FTT is relatively common among cleft patients, most commonly attributed to feeding problems during the first months of life. Close association between midline clefts and pituitary gland abnormalities prompted us to determine the frequency of growth hormone deficiency in cleft patients, which is easily treated. Methods: Any cleft patient with FTT was studied and when the patient’s height was under the 3rd percentile of normal, growth hormone was checked after clonidine administration. Growth hormone was checked before and 30, 60 and 90 minutes after clonidine use. Results: Of 670 patients with cleft lip or palate, 31 patients (4% had some kind of growth retardation according to weight, height or head circumstance. Eighteen patients were under the 3rd percentile of normal height. Growth hormone deficiency was detected in 8 patients out of 18 patients and overall frequency of growth hormone deficiency among cleft patients with growth retardation was 25.8% (8 out of 31. Seven patients of 8 were male whereas one was female and half of the patients were syndromic. Conclusion: Cleft patients have many problems with normal feeding and all kind of support should be provided to achieve near-normal feeding and they should be monitored for normal growth. Any patient with growth retardation, especially height decrease, should be assessed for growth hormone deficiency.

Quantitative Anthropometric Measures of Facial Appearance of Healthy Hispanic/Latino White Children: Establishing Reference Data for Care of Cleft Lip With or Without Cleft Palate

Science.gov (United States)

Lee, Juhun; Ku, Brian; Combs, Patrick D.; Da Silveira, Adriana. C.; Markey, Mia K.

2017-06-01

Cleft lip with or without cleft palate (CL ± P) is one of the most common congenital facial deformities worldwide. To minimize negative social consequences of CL ± P, reconstructive surgery is conducted to modify the face to a more normal appearance. Each race/ethnic group requires its own facial norm data, yet there are no existing facial norm data for Hispanic/Latino White children. The objective of this paper is to identify measures of facial appearance relevant for planning reconstructive surgery for CL ± P of Hispanic/Latino White children. Quantitative analysis was conducted on 3D facial images of 82 (41 girls, 41 boys) healthy Hispanic/Latino White children whose ages ranged from 7 to 12 years. Twenty-eight facial anthropometric features related to CL ± P (mainly in the nasal and mouth area) were measured from 3D facial images. In addition, facial aesthetic ratings were obtained from 16 non-clinical observers for the same 3D facial images using a 7-point Likert scale. Pearson correlation analysis was conducted to find features that were correlated with the panel ratings of observers. Boys with a longer face and nose, or thicker upper and lower lips are considered more attractive than others while girls with a less curved middle face contour are considered more attractive than others. Associated facial landmarks for these features are primary focus areas for reconstructive surgery for CL ± P. This study identified anthropometric measures of facial features of Hispanic/Latino White children that are pertinent to CL ± P and which correlate with the panel attractiveness ratings.

Risk factors and comorbidities in Brazilian patients with orofacial clefts

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Heglayne Pereira Vital da Silva

2018-04-01

Full Text Available Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P from Rio Grande do Norte (RN, Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences

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Ivy Kiemle Trindade-Suedam

2012-02-01

Full Text Available Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1 to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2 to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3 to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

Maternal occupational risk factors for oral clefts

NARCIS (Netherlands)

Lorente, C; Cordier, S; Bergeret, A; De Walle, HEK; Goujard, J; Ayme, S; Knill-Jones, R; Calzolari, E

Objectives This study investigated the role of maternal exposures at work during pregnancy in the occurrence of oral clefts. Methods The occupational exposures of 851 women (100 mothers of babies with oral clefts and 751 mothers of healthy referents) who worked during the first trimester of

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

Science.gov (United States)

Hunter, Janel Darcy; Davis, Melissa Ann; Law, Jennifer Rachel

2017-01-01

The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.

Primary unilateral cleft lip repair

OpenAIRE

Adenwalla, H. S.; Narayanan, P. V.

2009-01-01

The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard. The latter is the technique followed at our centre for all unilateral cleft lip patients. We operate on these at five to six months of age, do not use pre-surgical orthodontics, and follow a protocol to produce a notch-free vermillion. This is easy to follow even for trainees. We also perform clos...

Genetic survey of a group of children with clefting: implications for genetic counseling

NARCIS (Netherlands)

Hofstee, Y.; Kors, N.; Hennekam, R. C.

1993-01-01

A cleft lip, cleft palate, or both are associated with a high frequency of other anomalies. This study gives an inventory of associated anomalies in a consecutive group of children (n = 36) with clefts, referred to a local multidisciplinary cleft team in the Netherlands. In 47.2% of cleft patients

Presurgical Nasal Molding With a Nasal Spring in Patients With Mild-to-Moderate Nasal Deformity With Incomplete Unilateral Cleft Lip With or Without Cleft Palate.

Science.gov (United States)

Peanchitlertkajorn, Supakit

2018-01-01

Traditional nasoalveolar molding (NAM) requires steep learning curve for clinicians and significant compliance from parents. Nasal springs have been developed by the author to simplify presurgical nasal molding. This article presents the design, construction, and application of the spring. The treatment goal is to improve nasal deformity prior to primary repair in infants born with incomplete unilateral cleft lip with or without cleft palate. The design, fabrication, and utility of the nasal spring are described. The spring has a simpler design and construction compared to a traditional NAM appliance. Two patients with incomplete unilateral cleft lip with and without cleft palate are presented. The spring is constructed and delivered. The active arm of the spring can be 3-dimensionally (3-D) adjusted to mold the alar cartilage of the affected nostril. The spring does not require an oral plate for adherence as a traditional NAM appliance does, hence an oral impression is not needed. The spring is easy for clinicians to adjust. It also requires less compliance by parents. Main Outcome Measures/Results: The presurgical molding achieved by the use of a nasal spring improved surgical nasolabial aesthetic outcomes. The nasal springs are effective in reducing the initial cleft nasal deformity. This facilitates primary surgical cleft lip and nose correction and improves surgical outcomes in patients with incomplete unilateral cleft lip with or without cleft palate.

[Surgical correction of cleft palate].

Science.gov (United States)

Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

1990-04-01

This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

Dating brittle tectonic movements with cleft monazite

DEFF Research Database (Denmark)

Berger, Alfons; Gnos, E.; Janots, E.

2013-01-01

stress axis, which is characteristic for strike slip deformation. The inferred stress situation is consistent with observed kinematics and the opening of such clefts. Therefore, the investigated monazite-bearing cleft formed at the end of D2 and/or D3, and dextral movements along NNW dipping planes...

Branchial cleft anomalies and their mimics: computed tomographic evaluation

International Nuclear Information System (INIS)

Harnsberger, H.R.; Mancuso, A.A.; Muraki, A.S.; Byrd, S.E.; Dillon, W.P.; Johnson, L.P.; Hanafee, W.N.

1984-01-01

A review was made of the clinical records and radiographic examinations of 38 patients with neck lesions clinically suspected of being branchial cleft anomalies. The impact of computed tomography in this sometimes confusing clinical picture was assessed and CT criteria for diagnosing branchial cleft anomalies (BCAs) and differentiating them from their mimics were identified. Seventeen branchial cleft anomalies and 21 BCA mimics were evaluated. A definitive CT diagnosis of second branchial cleft cysts based on characteristic morphology, location, and displacement of surrounding structures was possible in 80% of cases. CT was found to be the best radiographic examination in making a definitive diagnosis of BCA if a neck mass was present

The value of multislice spiral CT in the pre-operative diagnosis of cleft palate

International Nuclear Information System (INIS)

Tang Guangxi; Sun Lianfen; Zhang Xiaolin; Yu Chengxin; Lu Ji; Wang Xiaopeng; Li Liya; Yang Cheng; Wang Jun; Tian Yiqing

2004-01-01

Objective: To evaluate the practical value of multislice spiral CT (MSCT) in the preoperative diagnosis of cleft palate. Methods: Twenty patients with cleft palate were examined by using thin-slice (1.25 mm/4i) axial MSCT scanning and CT virtual endoscope (CTVE) imaging before and after operations. The cleft of each lesion was measured in the primary axial images. Results: Of the 20 cases, soft-and-hard cleft palate (grade II) was detected in 10 cases, with the clefts of soft palate between 1.5 cm and 2.2 cm, and the clefts of soft-and-hard palate between 1.2 cm and 2.0 cm. The right utter cleft palates were found in 3 cases with the clefts of soft palate between 2.0 cm and 2.5 cm, the clefts of soft-and-hard palate between 2.0 cm and 2.4 cm, and the clefts of hard palate between 1.8 cm and 2.2 cm. The left utter cleft palates (grade III) were found in 5 cases with the clefts of soft palate between 1.2 cm and 1.8 cm, the clefts of soft-and-hard palate between 0.9 cm and 2.0 cm, and the clefts of hard palate between 0.9 cm and 1.8 cm. The bilateral utter cleft palates (grade III) were detected in 2 cases with the clefts of soft palate between 2.1 cm and 2.3 cm, the clefts of soft-and-hard palate between 1.8 cm and 2.0 cm, and the clefts of hard palate between 1.9 cm and 2.3 cm. Conclusion: MSCT could excellently display the shape of all lesions before operation, especially the splitting degree of hard cleft palates in the axial images. Accurate measurements could be done for the cleft of different lesions in MSCT images. CTVE could clearly and directly show the shape of the lesion's interior surface. The pre-operative and post-operative images of each case could be perfectly compared by the combination of MSCT and CTVE

The effects of oral clefts on hospital use throughout the lifespan

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Wehby George L

2012-03-01

Full Text Available Abstract Background Oral clefts are one of the most common birth defects worldwide. They require multiple healthcare interventions and add significant burden on the health and quality of life of affected individuals. However, not much is known about the long term effects of oral clefts on health and healthcare use of affected individuals. In this study, we evaluate the effects of oral clefts on hospital use throughout the lifespan. Methods We estimate two-part regression models for hospital admission and length of stay for several age groups up to 68 years of age. The study employs unique secondary population-based data from several administrative inpatient, civil registration, demographic and labor market databases for 7,670 individuals born with oral clefts between 1936 and 2002 in Denmark, and 220,113 individuals without oral clefts from a 5% random sample of the total birth population from 1936 to 2002. Results Oral clefts significantly increase hospital use for most ages below 60 years by up to 233% for children ages 0-10 years and 16% for middle age adults. The more severe cleft forms (cleft lip with palate have significantly larger effects on hospitalizations than less severe forms. Conclusions The results suggest that individuals with oral clefts have higher hospitalization risks than the general population throughout most of the lifespan.

Branchial cleft cyst encircling the hypoglossal nerve

Science.gov (United States)

Long, Kristin L.; Spears, Carol; Kenady, Daniel E.

2013-01-01

Branchial cleft anomalies are a common cause of lateral neck masses and may present with infection, cyst enlargement or fistulas. They may affect any of the nearby neck structures, causing compressive symptoms or vessel thrombosis. We present a case of a branchial cleft cyst in a 10-year-old boy who had been present for 1year. At the time of operation, the cyst was found to completely envelop the hypoglossal nerve. While reports of hypoglossal nerve palsies due to external compression from cysts are known, we believe this to be the first report of direct nerve involvement by a branchial cleft cyst. PMID:24963902

We can predict postpalatoplasty velopharyngeal insufficiency in cleft palate patients.

Science.gov (United States)

Leclerc, Jacques E; Godbout, Audrey; Arteau-Gauthier, Isabelle; Lacour, Sophie; Abel, Kati; McConnell, Elisa-Maude

2014-02-01

To find an anatomical measurement of the cleft palate (or a calculated parameter) that predicts the occurrence of velopharyngeal insufficiency (VPI) after palatal cleft repair. Retrospective cohort study. Charts were reviewed from cleft palate patients who underwent palatoplasty by the Von Langenbeck technique for isolated cleft palate or Bardach two-flap palatoplasty for cleft lip-palate. Seven anatomical cleft parameters were prospectively measured during the palatoplasty procedure. Three blinded speech-language pathologists retrospectively scored the clinically assessed VPI at 4 years of age. The recommendation of pharyngoplasty was also used as an indicator of VPI. From 1993 to 2008, 67 patients were enrolled in the study. The best predicting parameter was the ratio a/(30 - b1), in which a is defined as the posterior gap between the soft palate and the posterior pharyngeal wall and b1 is the width of the cleft at the hard palate level. An a/(30 - b1) ratio >0.7 to 0.8 is associated with a higher risk of developing VPI (relative risk = 2.2-5.1, sensitivity = 72%-81%, P cleft at the hard palate level and the posterior gap between the soft palate and the posterior pharyngeal wall were found to be the most significant parameters in predicting VPI. The best correlation was obtained with the ratio a/(30 - b1). 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

[Recurrent neck abscess due to a branchial cleft remnant].

Science.gov (United States)

Kruijff, Schelto; Mastboom, Walter J; Vriens, Menno R; Sidhu, Stan B; Delbridge, Leigh W

2013-01-01

Abscesses arising from a third or fourth branchial cleft remnant are uncommon clinical entities and are often not recognised in a timely manner. In a 33-year-old female patient with a recurrent abscess in the left side of her neck, the cause turned out to be a fistula in the third branchial cleft remnant. She was treated initially with antibiotics and prednisone without adequate results. When the abscess was finally surgically drained, she became very ill and was admitted to the ICU with sepsis and multiple organ failure. She was discharged from hospital after six weeks. Four months later, a third-branchial cleft remnant was found during pharyngoscopy, immediately after which the cleft remnant fistula was excised and an ipsilateral hemi-thyroidectomy was performed. In young patients with recurring peri-thyroidal abscesses, a branchial cleft remnant should be considered a causative factor; this could avoid high morbidity and a delay in the appropriate treatment.

The development of speech production in children with cleft palate

DEFF Research Database (Denmark)

Willadsen, Elisabeth; Chapman, Kathy

2012-01-01

The purpose of this chapter is to provide an overview of speech development of children with cleft palate +/- cleft lip. The chapter will begin with a discussion of the impact of clefting on speech. Next, we will provide a brief description of those factors impacting speech development...... for this population of children. Finally, research examining various aspects of speech development of infants and young children with cleft palate (birth to age five) will be reviewed. This final section will be organized by typical stages of speech sound development (e.g., prespeech, the early word stage...

[Inconformity between soft tissue defect and bony defect in incomplete cleft palate].

Science.gov (United States)

Zhou, Xia; Ma, Lian

2014-12-01

To evaluate the inconformity between soft tissue defect and bony defect by observing the cleft extent of palate with complete secondary palate bony cleft in incomplete cleft palate patient. The patients with incomplete cleft palate treated in Hospital of Stomatology Peking University from July 2012 to June 2013 were reviewed, of which 75 cases with complete secondary palate bony cleft were selected in this study. The CT scan and intraoral photograph were taken before operation. The patients were classified as four types according to the extent of soft tissue defect. Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and soft cleft palate, Type 3 soft cleft palate and Type 4 submucous cleft palate. Type 1 was defined as conformity group (CG). The other three types were defined as inconformity group (ICG) and divided into three subgroups (ICG-I), (ICG-II) and (ICG-III). Fifty-seven patients were in ICG group, and the rate of inconformity was 76% (57/75). The percentage of ICG-I, ICG-II and ICG-III was 47% (27/57), 23% (13/57) and 30% (17/57), respevtively. There are different types of soft tissue deformity with complete secondary palate bony cleft. The inconformity between soft tissue and hard tissue defect exits in 3/4 of isolated cleft palate patients.

Presurgical cleft lip and palate orthopedics: an overview

Science.gov (United States)

Alzain, Ibtesam; Batwa, Waeil; Cash, Alex; Murshid, Zuhair A

2017-01-01

Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO) treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. PMID:28615974

Tyr66 acts as a conformational switch in the closed-to-open transition of the SHP-2 N-SH2-domain phosphotyrosine-peptide binding cleft

Directory of Open Access Journals (Sweden)

MacKerell Alexander D

2007-03-01

Full Text Available Abstract Background The N-terminal SH2 domain (N-SH2 of the non-receptor tyrosine phosphatase SHP-2 is involved both in localization of SHP-2 by recognition of phosphotyrosine (pY peptides and self-inhibition of SHP-2 phosphatase activity through the formation of a protein – protein interface with the phosphatase domain. Mutations that disrupt this interface break the coupling between pY-peptide binding cleft conformation and self-inhibition, thereby increasing both SHP-2 phosphatase activity and pY-peptide binding affinity, and are associated with the congenital condition Noonan syndrome and various pediatric leukemias. To better characterize the molecular process involved in N-SH2 pY-dependent binding, we have applied explicit-solvent molecular dynamics simulations to study the closed-to-open transition of the N-SH2 pY-peptide binding cleft. Results The existence of stable conformations in the left-handed helical and the extended regions of Tyr66 φ/ψ space prevent rapid interconversion of the backbone and create a conformational switch such that Tyr66 in a left-handed helical backbone conformation results in an open cleft and in an extended backbone conformation results in a closed cleft. The stable conformations arise from deep, well-localized free-energy minima in the left-handed helical and extended regions of the Tyr66 φ/ψ map. Changing the Tyr66 backbone conformation from extended to left-handed helical induces a closed-to-open transition in the cleft, and the reverse change in backbone conformation induces the reverse, open-to-closed transition. In the open-cleft state, weak solvent-exposed interactions involving the sidechains of Tyr66, Asp40, Lys55, and Gln57 serve to anchor the Tyr66 sidechain to the surface of the protein and away from the binding cleft entrance, thereby facilitating pY-peptide access to the binding cleft. Conclusion The simulations point to a regulatory role for Tyr66 and surrounding residues in SHP-2 function

Disease: H01286 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01286 Microtia hearing impairment and cleft palate (MHICP) Microtia is a congenit...al anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing...HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. Developmental diso

Prevalence of dental anomalies in patients with cleft lip and palate.

Science.gov (United States)

Eslami, Neda; Majidi, Mohammad Reza; Aliakbarian, Majid; Hasanzadeh, Nadia

2013-09-01

The aim of the present study was to investigate the prevalence of dental anomalies in a group of patients with cleft lip and palate (CL/P) in the northeast of Iran. Ninety-one patients referring to the Cleft Lip and Palate Clinic of Mashhad Dental School were enrolled and classified into right CL/P, left CL/P, and bilateral CL/P groups. Photographs, dental casts, and panoramic and periapical radiographs were retrieved, and dental anomalies were recorded. χ test was used to analyze the frequency of dental anomalies according to type of cleft and sex. Missing maxillary lateral incisors was the most frequent dental anomaly, which was slightly higher in the bilateral group (61.1%). There were significantly more cases of missing lateral incisors outside the cleft area in right CL/P (P = 0.015). Peg lateral incisors were observed in 33.3% of bilateral CL/P compared with 28% of right and 23.3% of left unilateral cases. The sample presented rotations of central incisors in the cleft area in 33.3% of bilateral clefts. In unilateral clefts, it occurred more frequently in the right side (48%). Sexual dimorphism appeared only for maxillary central incisor rotation in the cleft area, which showed significantly greater frequency in females (P = 0.025). Transposition of maxillary canine and first premolars was found in 5.5% of bilateral, 8% of right, and 3.3% of left unilateral clefts. The prevalence of dental anomalies in the studied sample seems to be higher than that reported in the normal population. More anomalies were observed at the cleft side. The frequency of most anomalies was not significantly different between the 2 sexes.

The impact of cleft lip and palate repair on maxillofacial growth.

Science.gov (United States)

Shi, Bing; Losee, Joseph E

2015-03-23

Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not.

The impact of cleft lip and palate repair on maxillofacial growth

Science.gov (United States)

Shi, Bing; Losee, Joseph E

2015-01-01

Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

Reproductive patterns among Danish women with oral clefts

DEFF Research Database (Denmark)

Yttri, Janne Elin; Christensen, Kaare; Knudsen, Lisbeth

2011-01-01

Abstract Objective: The aim of the study was to compare the reproduction pattern among Danish women born with isolated oral clefts with the Danish background population. Design and setting: A nationwide population based historic cohort-study based on three registers: The Danish Facial Cleft...... Register, The Danish Civil Registration System and the Fertility of Women and Couples Dataset. Participants: Through linkages of the registers, number of children and the exact age at childbirth of all Danish women born with an oral cleft during 1950 through 1988 (N=1,931) were obtained. These data were...

Strategy for Nasal Reconstruction in Atypical Facial Clefts

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Fouad M. Ghareeb, FRCS, MD

2017-11-01

Full Text Available Summary:. It is difficult to put forward a strategy for the treatment of nasal clefts due to the rarity and diversity of anatomical aberrations of these cases contrary to the common nasal affection in cleft lip and palate patients, which differ in severity rather than differing in the morbid anatomy. This simple strategy for correction of these nasal clefts will hopefully help surgeons to achieve better results. In the mean time I intended to describe the morbid anatomy of these cases by choosing examples of each morbid anatomy.

Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

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Shaw, D.; Field, L. (Univ. of Calgary (Canada)); Ray, A. (Univ. of Toronto (Canada)); Marazita, M. (Medical College of Virginia, Richmond, VA (United States))

1993-11-01

Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

Oblique lip-alveolar banding in patients with cleft lip and palate.

Science.gov (United States)

Naidoo, S; Bütow, K-W

2015-04-01

We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Description of Mexican Cleft Surgeons' Experience With Foreign Surgical Volunteer Missions in Mexico.

Science.gov (United States)

Schoenbrunner, Anna R; Kelley, Kristen D; Buckstaff, Taylor; McIntyre, Joyce K; Sigler, Alicia; Gosman, Amanda A

2018-05-01

Mexican cleft surgeons provide multidisciplinary comprehensive cleft lip and palate care to children in Mexico. Many Mexican cleft surgeons have extensive experience with foreign, visiting surgeons. The purpose of this study was to characterize Mexican cleft surgeons' domestic and volunteer practice and to learn more about Mexican cleft surgeons' experience with visiting surgeons. A cross-sectional validated e-mail survey tool was sent to Mexican cleft surgeons through 2 Mexican plastic surgery societies and the Asociación Mexicana de Labio y Paladar Hendido y Anomalías Craneofaciales, the national cleft palate society that includes plastic and maxillofacial surgeons who specialize in cleft surgery. We utilized validated survey methodology, including neutral fact-based questions and repeated e-mails to survey nonresponders to maximize validity of statistical data; response rate was 30.6% (n = 81). Mexican cleft surgeons performed, on average, 37.7 primary palate repairs per year with an overall complication rate of 2.5%; 34.6% (n = 28) of respondents had direct experience with patients operated on by visiting surgeons; 53.6% of these respondents performed corrective surgery because of complications from visiting surgeons. Respondents rated 48% of the functional outcomes of visiting surgeons as "acceptable," whereas 43% rated aesthetic outcomes of visiting surgeons as "poor"; 73.3% of respondents were never paid for the corrective surgeries they performed. Thirty-three percent of Mexican cleft surgeons believe that there is a role for educational collaboration with visiting surgeons. Mexican cleft surgeons have a high volume of primary cleft palate repairs in their domestic practice with good outcomes. Visiting surgeons may play an important role in Mexican cleft care through educational collaborations that complement the strengths of Mexican cleft surgeons.

Neuroembryology and functional anatomy of craniofacial clefts

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Ewings Ember

2009-10-01

Full Text Available The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier′s observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier′s empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way.

Bilateral cleft lip nasal deformity

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Singh Arun

2009-01-01

Full Text Available Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it′s management both at the time of cleft lip repair

Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency

DEFF Research Database (Denmark)

Johannsen, Trine H; Mallet, Delphine; Dige-Petersen, Harriet

2005-01-01

Classical 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3beta-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slig...

Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

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Nickel, R.E.; Pillers, D.M.; Merkens, M.; Magenis, R.E.; Zonana, J. [Oregon Health Sciences Univ., Portland, OR (United States); Driscoll, D.A.; Emanuel, B.S. [Univ. of Pennsylvania Medical Center, Philadelphia, PA (United States)

1994-10-01

Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.

Evaluation of Teeth Development in Unilateral Cleft Lip and Palate ...

African Journals Online (AJOL)

2018-02-23

Feb 23, 2018 ... in patients with cleft lip and palate using medical software ... to be used in routine dental treatment and in particular the need to do more study. ... cleft palate/lip surgery were examined. ... segment from the “evaluate” tab of the program. Teeth .... cases of cleft palate or lip. ..... of maxillary canines: A CT study.

Sternal Cleft and Pectus Excavatum: A Combined Approach for the Correction of a Complex Anterior Chest Wall Malformation in a Teenager.

Science.gov (United States)

Tocchioni, Francesca; Ghionzoli, Marco; Lo Piccolo, Roberto; Deaconu, Diana E; Facchini, Flavio; Milanez De Campos, Jose R; Messineo, Antonio

2015-06-01

Congenital sternal cleft is a rare chest wall malformation. Because of the flexibility of the chest in infants, surgical repair should be performed by primary closure in the neonatal period. In adolescents and adults, different techniques have been suggested to overcome the lack of sternal bone tissue. We describe a very rare case of an 18-year-old woman with a complete bifid sternum associated with pectus excavatum for whom a satisfactory cosmetic and functional result was obtained by adequate surgical planning, which entailed a combination of two standardized surgical techniques. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Speech and language development in toddlers with and without cleft palate

NARCIS (Netherlands)

Priester, G. H.; Goorhuis-Brouwer, S. M.

Objective: The effect of early palate closure on speech and language development in children with cleft palate. Design: Comparative study. Setting: University Medical Center Groningen, Cleft Palate Team (The Netherlands). Materials and methods: Forty-three toddlers with cleft palate and thirty-two

Multidetector computerized tomographic fistulography in the evaluation of congenital branchial cleft fistulae and sinuses.

Science.gov (United States)

Sun, Zhipeng; Fu, Kaiyuan; Zhang, Zuyan; Zhao, Yanping; Ma, Xuchen

2012-05-01

The aim of this study was to primarily investigate the usefulness of computerized tomographic (CT) fistulography in the diagnosis and management of branchial cleft fistulae and sinuses. Fifteen patients with confirmed branchial fistulae or sinuses who had undergone CT fistulography were included. The diagnoses were confirmed by clinical, radiologic, or histopathologic examinations. The internal openings, distribution, and neighboring relationship of the lesions presented by CT fistulography were analyzed to evaluate the usefulness in comparison with x-ray fistulography. Nine patients were diagnosed with first branchial fistulae or sinuses, 2 with second branchial fistulae, and 4 with third or fourth branchial fistulae. The presence and location of the lesions could be seen on x-ray fistulography. The distribution of the lesions, internal openings, and neighboring relationship with parotid gland, carotid sheath, and submandibular gland could be clearly demonstrated on CT cross-sectional or volume-rendering images. CT fistulography could provide valuable information and benefit surgical planning by demonstrating the courses of branchial anomalies in detail. Copyright © 2012 Elsevier Inc. All rights reserved.

[Cleft lip, alveolar and palate sequelae. Proposal of new alveolar score by the Alveolar Cleft Score (ACS) classification].

Science.gov (United States)

Molé, C; Simon, E

2015-06-01

The management of cleft lip, alveolar and palate sequelae remains problematic today. To optimize it, we tried to establish a new clinical index for diagnostic and prognostic purposes. Seven tissue indicators, that we consider to be important in the management of alveolar sequelae, are listed by assigning them individual scores. The final score, obtained by adding together the individual scores, can take a low, high or maximum value. We propose a new classification (ACS: Alveolar Cleft Score) that guides the therapeutic team to a prognosis approach, in terms of the recommended surgical and prosthetic reconstruction, the type of medical care required, and the preventive and supportive therapy to establish. Current studies are often only based on a standard radiological evaluation of the alveolar bone height at the cleft site. However, the gingival, the osseous and the cellular areas bordering the alveolar cleft sequelae induce many clinical parameters, which should be reflected in the morphological diagnosis, to better direct the surgical indications and the future prosthetic requirements, and to best maintain successful long term aesthetic and functional results. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Clefting in pumpkin balloons

Science.gov (United States)

Baginski, F.; Schur, W.

NASA's effort to develop a large payload, high altitude, long duration balloon, the Ultra Long Duration Balloon, focuses on a pumpkin shape super-pressure design. It has been observed that a pumpkin balloon may be unable to pressurize into the desired cyclically symmetric equilibrium configuration, settling into a distorted, undesired stable state instead. Hoop stress considerations in the pumpkin design leads to choosing the lowest possible bulge radius, while robust deployment is favored by a large bulge radius. Some qualitative understanding of design aspects on undesired equilibria in pumpkin balloons has been obtained via small-scale balloon testing. Poorly deploying balloons have clefts, but most gores away from the cleft deploy uniformly. In this paper, we present models for pumpkin balloons with clefts. Long term success of the pumpkin balloon for NASA requires a thorough understanding of the phenomenon of multiple stable equilibria and means for quantitative assessment of measures that prevent their occurrence. This paper attempts to determine numerical thresholds of design parameters that distinguish between properly deploying designs and improperly deploying designs by analytically investigating designs in the vicinity of criticality. Design elements which may trigger the onset undesired equilibria and remedial measures that ensure deployment are discussed.

Contemporary Approaches in the Repair of Alveolar Clefts

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Ufuk Tatli

2014-08-01

Full Text Available Cleft lip and palate is one of the most common craniofacial anomalies. The repair of the alveolar clefts is an important part of the treatment for patients with cleft lip and palate. The treatment concepts of alveolar bone grafting are still controversial. The corresponding controversial issues are; timing of alveolar bone grafting, graft materials, and timing of the orthodontic expansion. In the present article, aforementioned controversial issues and contemporary treatment modalities of the maxillary alveolar clefts were reviewed in the light of current literature. In conclusion, the most suitable time for alveolar bone grafting is mixed dentition period. Grafting procedure may be performed in the early or late phases of this period depending on some clinical features. Adjunct orthodontic expansion procedures should be performed before and/or after grafting depending on the patient's current features. [Archives Medical Review Journal 2014; 23(4.000: 563-574

Maxillary sinus volumes of patients with unilateral cleft lip and palate.

Science.gov (United States)

Erdur, Omer; Ucar, Faruk Izzet; Sekerci, Ahmet Ercan; Celikoglu, Mevlut; Buyuk, Suleyman Kutalmıs

2015-10-01

Studies about maxillary sinuses of cleft lip-palate patients have increased since sinusitis is commonly observed in these patients. It is evident that maxillary sinus will be morphologically affected in these patients. And anatomic differences may be a cause or at least a contributor of sinusitis. The aim of this study was to compare maxillary sinus volumes of the non-syndromic patients with unilateral cleft lip-palate and control group by using Cone-Beam computed tomography. Tomography scans of 44 unilateral cleft lip-palate patients (18 right and 26 left) with age and gender matched 45 control patients were evaluated for the study. The images used in the study were part of the diagnostic records collected due to dental treatment needs. All tomographs were obtained in supine position by using Cone-Beam computed tomography (NewTom 5G, QR, Verona, Italy). The patient-specific Hounsfield values were set to include the largest amount of voxels in the sinuses volume calculation individually. All data were measured in mm(3). There was no statistically difference between the gender and age distributions of the groups. No statistically significant difference was found on the cleft and non-cleft side, the right and left side of the unilateral cleft lip-palate patients and the control group (P>0.05). For the inter group comparison, mean maxillary sinus volumes volume of unilateral cleft lip-palate patients (9894.55±4171.44mm(3)) was statistically smaller than the control group (11,977.90±4484.93mm(3)) (Pcleft lip-palate patients when compared with the healthy control group. No difference was found on the cleft, non-cleft side and the right-left side of the unilateral cleft lip-palate patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Osteopontin, osteocalcin, and osteoprotegerin expression in human tissue affected by cleft lip and palate

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Smane L.

2016-01-01

Full Text Available Cleft lip and palate (CLP is a common congenital anomaly with a complex etiology which has not been elucidated yet. This study investigated whether expression of osteopontin (OPN, osteoprotegerin (OPG, and osteocalcin (OC, which are essential for the normal craniofacial bone remodelling, is not regulated in children with CLP. Alveolar bone tissue samples were obtained from patients with complete bilateral (CB CLP (n = 14 during corrective plastic surgery and unaffected control subjects (n = 9. OPN, OPG, and OC expression was assessed by immunohistochemistry, and data were analyzed with the Mann-Whitney test. OPN expression was observed only sporadically in the alveolar bone of 3 patients, in contrast to the control group (z = −2.962; P < 0.003. The number of OPG-positive bone cells varied from occasional to moderate, in contrast to the control group (z = −2.247; P = 0.025. OC-positive osteocytes were present in moderate to numerous numbers in both patients and controls, with no significant difference between them (z = −1.356; P < 0.175. The prominent expression of OC characteristic for CBCLP affected hard tissue indicates a high potential of bone mineralization. Few OPG-positive osteocytes in the bone tissue implicate the disregulation of osteoclast differentiation, maturation, and activity, but few OPN-containing cells may prove the common disregulation of bone remodelling during cleft morphopathogenesis.

[Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital].

Science.gov (United States)

Pons-Bonals, Alicia; Pons-Bonals, Leticia; Hidalgo-Martínez, Sandra Margarita; Sosa-Ferreyra, Carlos Francisco

One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

Energy Technology Data Exchange (ETDEWEB)

Chenevix-Trench, G.; Jones, K. (Queensland Inst. of Medical Research (Australia) Univ. of Queensland (Australia)); Green, A.C.; Duffy, D.L.; Martin, N.G. (Queensland Inst. of Medical Research (Australia))

1992-12-01

The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

Communicative abilities in toddlers and in early school age children with cleft palate

NARCIS (Netherlands)

Ruiter, Jolien S.; Korsten-Meijer, Astrid G. W.; Goorhuis-Brouwer, Siena M.

Objectives: Evaluation of improvement in communicative abilities in children with nonsyndromic cleft palate. Methods: Longitudinal retrospective case history Study. Out of 117 children with cleft lip and/or cleft palate born in 1998, 1999 and 2000 and enrolled in the cleft palate team of the

Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery

OpenAIRE

Mallappa, Ashwini; Nella, Aikaterini A.; Kumar, Parag; Brooks, Kristina M.; Perritt, Ashley F.; Ling, Alexander; Liu, Chia-Ying; Merke, Deborah P.

2017-01-01

Management of adult patients with classic congenital adrenal hyperplasia (CAH) is challenging and often complicated by obesity, metabolic syndrome, and adverse cardiovascular risk. Alterations in weight can influence cortisol kinetics. A 19-year-old woman with classic CAH and morbid obesity experienced persistent elevations of androgen levels while receiving oral glucocorticoid therapy. Control of adrenal androgens was improved with continuous subcutaneous hydrocortisone infusion therapy, but...

Congenital diaphragmatic hernia with gastrointestinal symptomatology