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: S A Farrell
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 72 Issue 1 Pg. 18-23 (Oct 03 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9295068 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Adult
• Growth Disorders
• Hand Deformities, Congenital (diagnostic imaging)
• Hearing Loss, Conductive
• Humans
• Male
• Microphthalmos
• Phenotype
• Radiography
• Spine (diagnostic imaging)
• Syndrome