Oculo-facio-cardio-dental syndrome in a girl and her mother.
Indian J Hum Genet
;
2010 Sept; 16(3): 169-171
Article
in English
| IMSEAR
| ID: sea-138920
ABSTRACT
Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Tooth Abnormalities
/
Abnormalities, Multiple
/
Cataract
/
Brain
/
Female
/
Humans
/
Child
/
Microphthalmos
/
Adult
/
Cuspid
Language:
English
Journal:
Indian J Hum Genet
Year:
2010
Type:
Article
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