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Variations in expression of oral–facial–digital syndrome (type I): report of two cases
Author(s) -
Driva T.,
Franklin D.,
Crawford P. J. M.
Publication year - 2004
Publication title -
international journal of paediatric dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.183
H-Index - 62
eISSN - 1365-263X
pISSN - 0960-7439
DOI - 10.1111/j.1365-263x.2004.00503.x
Subject(s) - medicine , hypoplasia , frontal bossing , tongue , maxillary hypoplasia , facial expression , orthodontics , pediatrics , dentistry , surgery , anatomy , distraction , pathology , linguistics , philosophy , neuroscience , biology , distraction osteogenesis
Summary. Two case reports are presented, both clearly demonstrating the diagnosis of oral–facial–digital syndrome, type I, but widely different in the expression of the condition. The first patient showed only mild expression of the syndrome. On examination at the age of 4 years there were no obvious extra oral signs, intraoral findings included the presence of supernumeraries in the primary dentition, spacing in two areas and the presence of an extra frenum. The second can be considered as a more severe case. This patient had many of the typical manifestations, including frontal bossing, a degree of zygomatic hypoplasia and clinodactyly. Orally, the most striking finding was a bilateral cleft palate which had not been diagnosed prior to examination at the age of 6 years. Other findings included multiple frena and a bifid tongue.