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伴有肢体远端畸形的先天性头皮颅骨缺损(亚当斯 - 奥利弗综合征——麦库西克编号10030):常染色体隐性遗传的进一步证据

Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.

作者信息

Koiffmann C P, Wajntal A, Huyke B J, Castro R M

机构信息

Department of Biology, Institute of Biosciences, São Paulo, Brazil.

出版信息

Am J Med Genet. 1988 Feb;29(2):263-8. doi: 10.1002/ajmg.1320290203.

Abstract

We describe a man with manifestations of the Adams-Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first-cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed.

摘要

我们描述了一名患有亚当斯-奥利弗综合征表现的男性:先天性头皮缺损并伴有手指和脚趾发育不全。患者的父母是正常的一级表亲:在七个兄弟姐妹中,三个姐妹和两个兄弟正常;两个患有相同头皮病变的兄弟因该异常区域出血而死亡。没有其他受影响亲属的证据。我们患者的家族提示该疾病为常染色体隐性遗传,其表型表现与常染色体显性形式相同。文中讨论了皮纹学研究结果。

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