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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.

SUBMITTER: Davoody A

PROVIDER: S-EPMC3354011 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

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

Davoody Amirparviz A Chen I-Ping IP Nanda Ravindra R Uribe Flavio F Reichenberger Ernst J EJ

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 20110708 5

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 fac ...[more]

PMID: 21740180

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

Publications

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

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