Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome
- 15 December 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (4) , 464-468
- https://doi.org/10.1002/ajmg.1320410417
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.Keywords
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