Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities; D002490:Central Nervous System / Q000002:abnormalities; D003103:Coloboma / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D014564:Urogenital Abnormalities