Oral-facial digital syndrome type 1

The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology...

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Bibliographic Details
Published in:	Indian pediatrics Vol. 44; no. 11; pp. 854 - 856
Main Authors:	Mihci, Ercan, Tacoy, Sukran, Ozbilim, Gulay, Franco, Brunella
Format:	Journal Article
Language:	English
Published:	India 01-11-2007
Subjects:	Humans Infant Male Orofaciodigital Syndromes - genetics Orofaciodigital Syndromes - pathology Proteins - genetics
Online Access:	Get full text
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Summary:	The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology in addition to cleft palate and multiple masses on the tongue which resulted in feeding problems. Surgical intervention was done. Molecular analysis revealed absence of OFD gene.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0974-7559