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[出生后发育加速、张力亢进、中指骨及股骨远端干骺端增大、特殊面容:韦弗综合征一例?]

[Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?].

作者信息

Bosch-Banyeras J M, Salcedo S, Lucaya J, Laverde R, Boronat M, Marti-Henneberg C

出版信息

Arch Fr Pediatr. 1978 Feb;35(2):177-83.

PMID:637674
Abstract

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.

摘要

描述了一名患有骨骼成熟加速、耳朵发育异常大以及眼距过宽的儿童。这些都是马歇尔-史密斯综合征和韦弗综合征的特征。该儿童智力发育迟缓,中指骨增大,这是仅在马歇尔-史密斯综合征中出现的特征。然而,干骺端也有增大,这是韦弗综合征的一个特征。文中讨论了这些综合征可能代表同一实体的不同表现形式的可能性。

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