title: Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?
abstract: An adult male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes is described. A review of the literature, focusing on his major findings, suggests that his manifestations might be an extension of the phenotype of GOMBO (growth retardation, ocular abnormalities, microcephaly, brachydactyly, oligophrenia) syndrome.
authors.affiliation: Division of Genetics, The Credit Valley Hospital, Mississauga, Ontario, Canada.
authors.forename: S A
authors.initials: SA
authors.lastname: Farrell
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D006130:Growth Disorders; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006314:Hearing Loss, Conductive; D006801:Humans; D008297:Male; D008850:Microphthalmos; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome