Oculofaciocardiodental syndrome: report of a rare case.
Oculofaciocardiodental syndrome is a very rare multiple congenital anomaly syndrome characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects, and dental anomalies including canine radiculomegaly and oligodontia. It is unrecognized by many medical and dental professionals. Oculofaciocardiodental syndrome is inherited as an X-linked dominant condition and is lethal in males. Only 20 cases have been documented to date. The present case is that of an affected female who had congenital cataracts, microphthalmia, characteristic dental anomalies, and typical facial dysmorphism.
Sujatha
Reddy S
RS
Department of Oral Medicine, Diagnosis, and Radiology, MS Ramaiah Dental College and Hospital, Bangalore, Kamataka, India. s_sujathajanardhan@yahoo.com
Namita
Raghav
R
D000015:Abnormalities, Multiple; D003481:Cuspid / Q000002:abnormalities*; D005124:Eye Abnormalities; D005260:Female; D040181:Genetic Diseases, X-Linked; D006330:Heart Defects, Congenital; D006801:Humans; D019767:Maxillofacial Abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities; D014092:Tooth Root / Q000002:abnormalities*; D055815:Young Adult