Branchio-oculo-facial syndrome (BOFS) and congenital heart defects.
نویسندگان
چکیده
We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia and decreased deep tendon reflexes. Echocardiography showed the presence of a type-A complete atrioventricular septal defect and patent ductus arteriosus. This description strengthens the possibility of congenital heart defects being part of the spectrum of anomalies seen in BOFS.
منابع مشابه
A Case of Branchio-oculo-facial Syndrome.
Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old g...
متن کاملOcular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
PURPOSE To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation wa...
متن کاملGenotype-phenotype analysis of the branchio-oculo-facial syndrome.
Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutations involving TFAP2A result in BOFS, we studied a total of 30 families (41 affected individuals); 26/30 (87%) ...
متن کاملAnalysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
Multiple lines of evidence indicate that the AP-2 transcription factor family has an important regulatory function in human craniofacial development. Notably, mutations in TFAP2A, the gene encoding AP-2α, have been identified in patients with Branchio-Oculo-Facial Syndrome (BOFS). BOFS is an autosomal-dominant trait that commonly presents with facial clefting, eye defects and branchial skin ano...
متن کاملMiddle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone...
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ورودعنوان ژورنال:
- Arquivos brasileiros de cardiologia
دوره 92 2 شماره
صفحات -
تاریخ انتشار 2009