Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.
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.
Charrow
J
J
Department of Pediatrics, Northwestern University Medical School, Chicago, Illinois.
Poznanski
A K
AK
Unger
F M
FM
Robinow
M
M
D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome