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Microphthalmia, marked short stature, hearing loss, and developmental delay: Extension of the phenotype of GOMBO syndrome?

✍ Scribed by Farrell, S. A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 28 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971003)72:1<18::aid-ajmg4>3.0.co;2-r

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✦ Synopsis

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.

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