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伴有心包缩窄的生长发育迟缓。穆利布雷侏儒症综合征。

Growth failure with pericardial constriction. The syndrome of mulibrey nanism.

作者信息

Voorhess M L, Husson G S, Blackman M S

出版信息

Am J Dis Child. 1976 Oct;130(10):1146-8. doi: 10.1001/archpedi.1976.02120110108017.

Abstract

The features of the syndrome of mulibrey nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina, evidence of pericardial constriction, J-shaped sella turcica, and fibrous dysplasia of bones. To date, 24 individuals from Finland and a boy from Egypt have been reported with the syndrome. The patient reviewed in this article is the first known affected child from the United States. It is important that physicians look for this disorder in children with severe growth failure and hepatomegaly because of the potential seriousness of undetected pericardial constriction.

摘要

穆利布瑞-纳尼斯综合征是一种常染色体隐性疾病,发病机制不明,其特征包括严重生长发育迟缓、视网膜黄染、心包缩窄迹象、J形蝶鞍以及骨纤维发育异常。迄今为止,已有来自芬兰的24例患者以及一名来自埃及的男孩被报道患有该综合征。本文所报道的患者是已知的首例来自美国的患病儿童。由于未被发现的心包缩窄可能具有的严重性,医生在患有严重生长发育迟缓和肝肿大的儿童中寻找这种疾病非常重要。

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