Branchio-oculo-facial syndrome with valvular pulmonic stenosis.
نویسندگان
چکیده
منابع مشابه
Middle 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...
متن کاملA 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...
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عنوان ژورنال:
- Indian pediatrics
دوره 41 11 شماره
صفحات -
تاریخ انتشار 2004