AUTOSOMAL RECESSIVE MICROCEPHALY WITH SEVERE PSYCHOMOTOR RETARDATION

被引:7
作者
SCHEFFER, IE
BARAITSER, M
WILSON, J
GODFREY, C
BRETT, EM
机构
[1] HOSP SICK CHILDREN, DEPT CLIN GENET, GREAT ORMOND ST, LONDON WC1N 3JH, ENGLAND
[2] N MIDDLESEX HOSP, DEPT GEN PAEDIAT, LONDON N18 1QX, ENGLAND
[3] HOSP SICK CHILDREN, DEPT NEUROL, LONDON WC1N 3JH, ENGLAND
关键词
AUTOSOMAL RECESSIVE MICROCEPHALY; PSYCHOMOTOR RETARDATION; SEVERE;
D O I
10.1055/s-2008-1071313
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients.
引用
收藏
页码:53 / 56
页数:4
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