Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature

被引：30

作者：

Davoody, Amirparviz ^{[1
]}

Chen, I-Ping ^{[2
]}

Nanda, Ravindra ^{[1
]}

Uribe, Flavio ^{[1
]}

Reichenberger, Ernst J. ^{[3
]}

机构：

[1] Univ Connecticut, Ctr Hlth, Dept Craniofacial Sci, Div Orthodont, Farmington, CT 06030 USA

[2] Univ Connecticut, Ctr Hlth, Dept Oral Hlth & Diagnost Sci, Ctr Regenerat Med & Skeletal Dev, Farmington, CT 06030 USA

[3] Univ Connecticut, Ctr Hlth, Ctr Restorat Med & Skeletal Dev, Dept Reconstruct Sci, Farmington, CT 06030 USA

来源：

CLEFT PALATE-CRANIOFACIAL JOURNAL | 2012年 / 49卷 / 05期

关键词：

BCOR; mutation analysis; oculofaciocardiodental syndrome; OFCD; CARDIO-DENTAL SYNDROME; LENZ MICROPHTHALMIA SYNDROMES; BCOR; MUTATIONS; COREPRESSOR; EXPRESSION; MOTHER; TFAP2A;

D O I：

10.1597/10-256

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

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.

引用

页码：E55 / E60

页数：6

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