The Goldenhar syndrome: a natural history.
Twenty-four patients with the 1st branchial arch (Goldenhar) syndrome have been ascertained ranging in age from newborn to 58 years. In infancy, the ocular, auricular, and palatal problems appear most prominent. In childhood, the correction of, or compensation for, hearing deficit assumes greater importance. Incoordination of deglutition, achalasia of the esophagus, hiatus hernia, and mobile cecum (hitherto unreported features) are characteristically troublesome in infancy and early childhood. Cosmetic problems though significant throughout, engender particular concern during adolescence and early adulthood. Spinal problems with early vertebral degenerative changes cause clinical difficulty requiring surgery during adulthood. Fertility appeared to be unimpaired and longevity is probably unaffected (although our oldest patient is less than 60 years old). Only three cases were mentally subnormal and none died following ascertainment.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications; D004423:Ear / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D008875:Middle Aged; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome