Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
1989; Wiley; Volume: 32; Issue: 2 Linguagem: Inglês
10.1002/ajmg.1320320217
ISSN1096-8628
AutoresAlain Verloès, C Lambotte, Giovanni Neri, James F. Reynolds,
Tópico(s)Fetal and Pediatric Neurological Disorders
ResumoAbstract 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 ( C erebellar vermis hypo/aplasia, O ligophrenia, congenital A taxia, C oloboma, Hepatic fibrocirrhosis) is suggested.
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