Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature
Identifieur interne : 004103 ( Main/Exploration ); précédent : 004102; suivant : 004104Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature
Auteurs : Amirparviz Davoody [États-Unis] ; I-Ping Chen [États-Unis] ; Ravindra Nanda [États-Unis] ; Flavio Uribe [États-Unis] ; Ernst J. Reichenberger [États-Unis]Source :
- The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [ 1055-6656 ] ; 2011.
Abstract
Oculofaciocardiodental syndrome (OFCD) is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The clinical diagnosis of OFCD can be challenging due to a wide variety of symptoms. OFCD is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features and a comprehensive overview of OFCD. Diagnosis of OFCD in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.
Url:
DOI: 10.1597/10-256
PubMed: 21740180
PubMed Central: 3354011
Affiliations:
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