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Article
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
Article first published online: 5 JUN 2005
DOI: 10.1002/ajmg.1320320217
Copyright © 1989 Wiley-Liss, Inc., A Wiley Company
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Verloes, A., Lambotte, C., Neri, G. and Reynolds, J. F. (1989), Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am. J. Med. Genet., 32: 227–232. doi: 10.1002/ajmg.1320320217
Publication History
- Issue published online: 5 JUN 2005
- Article first published online: 5 JUN 2005
- Manuscript Revised: 16 JUN 1988
- Manuscript Received: 15 JAN 1988
- Abstract
- References
- Cited By
Keywords:
- COACH syndrome;
- kidney fibrosis;
- liver cirrhosis;
- liver fibrosis;
- mental retardation;
- vermis hypoplasia
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 sib-ships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.