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一名日本男孩患有的类韦弗综合征。

A Weaver-like syndrome in a Japanese boy.

作者信息

Tsukahara M, Tanaka S, Kajii T

出版信息

Clin Genet. 1984 Jan;25(1):73-8. doi: 10.1111/j.1399-0004.1984.tb00466.x.

Abstract

A 5 1/2-year-old Japanese boy with a Weaver-like syndrome is reported. In addition to pre- and post-natal overgrowth, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome. These unusual features included mongoloid slanting of the palpebral fissures, cleft lip, accessory nipples, pectus excavatum, a bifid xyphoid process, irregularly shaped vertebral bodies, inflexible right thumb, clinodactyly of the fifth fingers, abnormal dermatoglyphic patterns and deep plantar furrows. His carpal bone age corresponded to his chronological age, while the tubular bone age was accelerated.

摘要

报告了一名5岁半患韦弗样综合征的日本男孩。除了具有韦弗综合征典型的出生前和出生后过度生长、智力迟钝、特殊的颅面外观及其他异常外,他还有该综合征未描述的几种临床特征。这些异常特征包括睑裂呈蒙古样倾斜、唇裂、副乳头、漏斗胸、剑突分叉、椎体形状不规则、右手拇指僵硬、第五指屈曲指、皮纹异常及足底深沟。他的腕骨年龄与实际年龄相符,而管状骨年龄加速。

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