Branchio-oculo-facial syndrome with the atresia of external ear.
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.
Ozturk
Ozcan
O
Department of Otorhinolaryngology, Duzce Medical Faculty, 81010 Duzce, Turkey. ozturko_70@yahoo.com
Tokmak
Abdurrahman
A
Demirci
Levent
L
Silan
Fatma
F
Guclu
Ender
E
D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis*; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D008297:Male