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Published on: February 29, 2020
Branchio-oculo-facial syndrome with the atresia of external ear
Ozcan Ozturk1, Abdurrahman Tokmak, Levent Demirci
1Department of Otorhinolaryngology, Duzce Medical Faculty, 81010 Duzce, Turkey. ozturko_70@yahoo.com
Abstract:
We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized.
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