Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

Am J Med Genet. 1989 Feb;32(2):227-32. doi: 10.1002/ajmg.1320320217.

Abstract

Three children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sibships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.

MeSH terms

  • Adolescent
  • Cerebellar Ataxia / genetics*
  • Cerebellum / abnormalities*
  • Child
  • Coloboma / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Liver Cirrhosis / genetics*
  • Male
  • Syndrome
  • Tomography, X-Ray Computed