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  • Title: Branchio-oculo-facial syndrome with the atresia of external ear.
    Author: Ozturk O, Tokmak A, Demirci L, Silan F, Guclu E.
    Journal: Int J Pediatr Otorhinolaryngol; 2005 Nov; 69(11):1575-8. PubMed ID: 15936829.
    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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