轴后性肢端面部发育不全：两例患者报告。
Postaxial acrofacial dysostosis: report on two patients.
作者信息
Pereira S C, Rocha C M, Guion-Almeida M L, Richieri-Costa A
机构信息
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1992 Oct 1;44(3):274-9. doi: 10.1002/ajmg.1320440303.
PMID:1488973
Abstract
We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance.
摘要
我们报告了2例轴后性肢端面部发育不全（AFD）综合征患者。1例为散发病例；另1例有1个此前已报道的同样患病的兄弟[里基耶里 - 科斯塔和吉昂 - 阿尔梅达，1989年]。同胞复发提示常染色体隐性遗传。
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