Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome

Joel Charrow*, Andrew K Poznanski, F. M. Unger, M. Robinow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.

Original languageEnglish (US)
Pages (from-to)464-468
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume41
Issue number4
DOIs
StatePublished - Jan 1 1991

Keywords

  • autosomal recessive inheritance
  • cerebellar hypoplasia
  • endosteal sclerosis
  • mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

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