ACROCALLOSAL SYNDROME

被引:23
作者
HENDRIKS, HJE
BRUNNER, HG
HAAGEN, TAM
HAMEL, BCJ
机构
[1] UNIV HOSP NIJMEGEN,DEPT MED GENET,ST RADBOUD M317,POB 9101,6500 HB NIJMEGEN,NETHERLANDS
[2] UNIV HOSP NIJMEGEN,DEPT PEDIAT,6500 HB NIJMEGEN,NETHERLANDS
[3] UNIV HOSP NIJMEGEN,DEPT CHILD NEUROL,6500 HB NIJMEGEN,NETHERLANDS
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 03期
关键词
Brain malformation; Greig syndrome; Mouse/human homology; Polydactyly;
D O I
10.1002/ajmg.1320350325
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Acrocallosal syndrome is an autosomal recessive disorder of brain malformation and complex polydactyly. We report on an additional patient with this disorder. It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal syndrome. The finding of an extra bone within the anterior fontanel in our patient suggests similarity to the Xt mouse mutant, which is homologous to Greig syndrome in man. This provides additional support for the hypothesis of allelism of the Greig and acrocallosal syndromes.
引用
收藏
页码:443 / 446
页数:4
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