伴有双侧拇指紧握的X连锁智力迟钝：另一患病家族的报告。

X-linked mental retardation with bilateral clasped thumbs: report of another affected family.

作者信息

Straussberg R, Blatt I, Brand N, Kessler D, Katznelson M B, Goodman R M

机构信息

Department of Pediatrics, Hasharon Hospital, Petach-Tikvah, Israel.

出版信息

Clin Genet. 1991 Nov;40(5):337-41. doi: 10.1111/j.1399-0004.1991.tb03105.x.

DOI:10.1111/j.1399-0004.1991.tb03105.x

PMID:1756607

Abstract

A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X-linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X-linked mental retardation syndromes.

摘要

据报道，一个西班牙裔犹太家庭中，两兄弟患有智力障碍、下肢痉挛和双侧拇指内收畸形。这种X连锁隐性疾病仅被报道过两次。我们认为这种综合征在X连锁智力障碍综合征中是一个独特的实体。