Oculo-facio-cardio-dental syndrome in a girl and her mother.

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dc.contributor.authorRudrappa, Sudha
dc.contributor.authorKumar, Rajendra
dc.contributor.authorKumar, G S
dc.date.accessioned2012-06-11T05:15:40Z
dc.date.available2012-06-11T05:15:40Z
dc.date.issued2010-09
dc.description.abstractCongenital 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.en_US
dc.identifier.citationRudrappa Sudha, Kumar Rajendra, Kumar G S. Oculo-facio-cardio-dental syndrome in a girl and her mother. Indian Journal of Human Genetics. 2010 Sept; 16(3): 169-171.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138920
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3009431/en_US
dc.subjectCongenital heart defectsen_US
dc.subjectdental anomaliesen_US
dc.subjectfacial dysmorphismen_US
dc.subjectX-linked dominant inheritanceen_US
dc.subject.meshAbnormalities, Multiple --genetics
dc.subject.meshAdult
dc.subject.meshBrain --abnormalities
dc.subject.meshCataract --congenital
dc.subject.meshCataract --epidemiology
dc.subject.meshCataract --genetics
dc.subject.meshCuspid --abnormalities
dc.subject.meshChild
dc.subject.meshFace --abnormalities
dc.subject.meshFacial Bones --abnormalities
dc.subject.meshFemale
dc.subject.meshGenetic Diseases, X-Linked --genetics
dc.subject.meshHeart Defects, Congenital --epidemiology
dc.subject.meshHeart Defects, Congenital --genetics
dc.subject.meshHumans
dc.subject.meshMicropthalmos --congenital
dc.subject.meshMicrophthalmos --epidemiology
dc.subject.meshMicropthalmos --genetics
dc.subject.meshMothers
dc.subject.meshTooth Abnormalities
dc.titleOculo-facio-cardio-dental syndrome in a girl and her mother.en_US
dc.typeArticleen_US
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