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伴有全垂体功能减退的Silver-Russell综合征(作者译)

[Silver-Russell syndrome with panhypopituitarism (author's transl)].

作者信息

Stögmann W, Borkenstein M, Grubbauer H M

出版信息

Klin Padiatr. 1978 Nov;190(6):586-91.

PMID:568686
Abstract

This is a report on a 14 years old boy suffering from the unusual combination of Silver-Russell syndrome with panhypopituitarism. The Silver-Russell syndrome is a special form of primordial dwarfism characterised by congenital asymmetry, craniofacial dysmorphy and other anomalies. Its cause is unknown, intrauterine noxes and genetical factors are discussed. In the most cases results of hormone determinations are normal, but also cases with elevated or very low hormone levels were published. This is the first report about a Silver-Russell syndrome combined with panhypopituitarism.

摘要

这是一份关于一名14岁男孩的报告,该男孩患有Silver-Russell综合征合并全垂体功能减退这一罕见组合病症。Silver-Russell综合征是一种原发性侏儒症的特殊形式,其特征为先天性不对称、颅面部畸形及其他异常。其病因不明,目前正在探讨宫内有害因素和遗传因素。在大多数情况下,激素测定结果正常,但也有激素水平升高或极低的病例报道。这是关于Silver-Russell综合征合并全垂体功能减退的首例报告。

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