Otolaryngologic aspects of oral-facial-digital syndrome.
The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eight different types of OFD are discussed, with particular attention to the characteristics of the most interest to the otolaryngologist.
Matheny
M
M
Division of Otolaryngology - Head and Neck Surgery, University of Kentucky College of Medicine, Chandler Medical Centre, C234-A, 800 Rose Street, Lexington, KY 40536, USA.
Hall
B
B
Manaligod
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D005500:Follow-Up Studies; D006222:Hamartoma / Q000175:diagnosis* / Q000601:surgery; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007223:Infant; D008297:Male; D010036:Otolaryngology / Q000379:methods; D017689:Polydactyly / Q000175:diagnosis* / Q000601:surgery; D013577:Syndrome; D014060:Tongue Diseases / Q000175:diagnosis* / Q000601:surgery