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

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.

authors

Davoody A,Chen IP,Nanda R,Uribe F,Reichenberger EJ

doi

10.1597/10-256

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

e55-60

issue

5

eissn

1055-6656

issn

1545-1569

journal_volume

49

pub_type

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