Familial CHARGE syndrome: clinical report with autopsy findings.
We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002754:Choanal Atresia / Q000150:complications; D003103:Coloboma / Q000150:complications; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D009898:Optic Disk; D013577:Syndrome; D013737:Testis / Q000002:abnormalities