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Otolaryngologic aspects of oral–facial–digital syndrome
Journal article   Open access   Peer reviewed

Otolaryngologic aspects of oral–facial–digital syndrome

Michael Matheny, Bryan Hall and Jose M Manaligod
International journal of pediatric otorhinolaryngology, Vol.53(1), pp.39-44
2000
DOI: 10.1016/S0165-5876(00)00285-8
PMID: 10862923
url
https://doi.org/10.1016/S0165-5876(00)00285-8View
Published (Version of record) Open Access

Abstract

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.
Oral–facial–digital Cleft palate Tongue mass Congenital Polydactyly

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