American journal of medical genetics 1997-Oct
Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?
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Mots clés
Abstrait
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.