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[韦弗综合征。关于一例新病例]

[Weaver's syndrome. Apropos of a new case].

作者信息

Trabelsi M, Ben Hariz M, Monastiri K, Taktak M, Bennaceur B

机构信息

Service de Pédiatrie, Hôpital d'Enfants, Tunis-Jebbari, Tunisie.

出版信息

Ann Pediatr (Paris). 1990 May;37(5):327-30.

PMID:2369050
Abstract

We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.

摘要

我们报告了一例男性婴儿患韦弗综合征的新病例。这种临床病症较为罕见,于1974年首次被描述。患者表现为生长加速和骨骼成熟加快、颅面部畸形,以及股骨远端干骺端增宽。鉴别诊断应主要排除马歇尔-史密斯综合征,该综合征包括面部畸形、骨骼成熟加速、生长发育迟缓以及智力障碍。我们的病例不同寻常之处在于存在呼吸系统疾病(这是马歇尔-史密斯综合征中常见但在韦弗综合征中很少见的特征)、充血性心肌病(该综合征中显然从未有过相关描述)以及明显的巨头症。

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