新发现的常染色体隐性遗传的巨脑回/智力发育迟缓/过度生长综合征
Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.
作者信息
Richieri-Costa A, Guion-Almeida M L, Cohen M M
机构信息
Serviço de Genética Dlínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1993 Aug 15;47(2):278-80. doi: 10.1002/ajmg.1320470227.
PMID:8213920
Abstract
We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.
摘要
我们报告了两名非近亲结婚父母所生的同胞，他们患有智力发育迟缓、身材过度生长、颅缝早闭、远端关节挛缩、骶部酒窝和关节松弛。这些患者可能患有一种此前未被描述的常染色体隐性综合征。
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