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Cleft Palate Craniofac J. 2012 Sep;49(5):e55-60. doi: 10.1597/10-256. Epub 2011 Jul 8.

Oculofaciocardiodental syndrome: a rare case and review of the literature.

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1
University of Connecticut Health Center, Department of Craniofacial Sciences, Division of Orthodontics, Farmington, CT 06030, USA.

Abstract

Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome 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, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.

PMID:
21740180
PMCID:
PMC3354011
DOI:
10.1597/10-256
[Indexed for MEDLINE]
Free PMC Article
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