TY - JOUR
T1 - Autosomal recessive cerebellar hypoplasia and endosteal sclerosis
T2 - A newly recognized syndrome
AU - Charrow, J.
AU - Poznanski, A. K.
AU - Unger, F. M.
AU - Robinow, M.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
KW - autosomal recessive inheritance
KW - cerebellar hypoplasia
KW - endosteal sclerosis
KW - mental retardation
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U2 - 10.1002/ajmg.1320410417
DO - 10.1002/ajmg.1320410417
M3 - Article
C2 - 1776639
AN - SCOPUS:0025786026
SN - 0148-7299
VL - 41
SP - 464
EP - 468
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -