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一名患有杜波维茨综合征的日本患者。

A Japanese patient with the Dubowitz syndrome.

作者信息

Kondo I, Takeda K, Kuwajima K, Hirano T

出版信息

Clin Genet. 1987 Jun;31(6):389-92. doi: 10.1111/j.1399-0004.1987.tb02830.x.

Abstract

A 2-year-old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic features.

摘要

本文报告了一名2岁日本男性,其临床特征包括宫内和出生后生长发育迟缓、轻度智力障碍、小头畸形以及特征性面容,如前额倾斜、睑裂狭小、单侧眼睑下垂、鼻梁宽阔、耳廓发育不良和小颌后缩。该患者的临床发现与杜波维茨综合征患者的表现极为相似。然而,所有已报道的杜波维茨综合征病例均为白种人。基于这些特征,即使在任何种族的散发病例中也可诊断出该综合征。

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