Journal
CLEFT PALATE-CRANIOFACIAL JOURNAL
Volume 49, Issue 5, Pages E55-E60Publisher
ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
DOI: 10.1597/10-256
Keywords
BCOR; mutation analysis; oculofaciocardiodental syndrome; OFCD
Categories
Funding
- NIH [M01RR006192]
Ask authors/readers for more resources
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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available