AUTOSOMAL DOMINANT MICROCEPHALY

被引:44
作者
HASLAM, RHA
SMITH, DW
机构
[1] UNIV CALGARY, DIV PEDIAT, CALGARY T2N 1N4, ALBERTA, CANADA
[2] UNIV WASHINGTON, SEATTLE, WA 98195 USA
关键词
D O I
10.1016/S0022-3476(79)80714-3
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissues, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly. It would appear that autosonal dominant microcephaly is more common than previously recorded, and that head circumference measurements of siblings and parents of affected patients should become a part of the initial investigation. © 1979 The C. V. Mosby Company.
引用
收藏
页码:701 / 705
页数:5
相关论文
共 11 条
[1]  
BLACKWOOD W, 1963, GREENFIELDS NEUROPAT, P348
[2]  
Book JA, 1953, AM J MENT DEF, V57, P637
[3]  
KOCH G, 1959, Acta Genet Med Gemellol (Roma), V8, P75
[4]  
KOMAI T, 1955, AM J HUM GENET, V7, P51
[5]  
LEMIRE RJ, 1975, NORMAL ABNORMAL DEV, P47
[6]  
MCKUSICK VA, 1978, MENDELIAN INHERITANC, P588
[7]  
MENKES JH, 1974, TXB CHILD NEUROLOGY, P148
[8]  
PORTER IH, 1968, HEREDITY DISEASE, P88
[9]  
QAZI QH, 1975, CLIN GENET, V7, P85
[10]  
QAZI QH, 1973, CLIN GENET, V4, P46