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Article

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

American journal of medical genetics - 3 Oct 1997

Farrell S A

Abstract excerpt

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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Identifiers

PMID: 9295068
DOI: 10.1002/(sici)1096-8628(19971003)72:1<18::aid-ajmg4>3.0.co;2-r

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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