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科斯特洛综合征:皮肤松弛症的自然病史及鉴别诊断

Costello syndrome: natural history and differential diagnosis of cutis laxa.

作者信息

Davies S J, Hughes H E

机构信息

Institute of Medical Genetics, University of Wales Hospital, Heath Park, Cardiff, UK.

出版信息

J Med Genet. 1994 Jun;31(6):486-9. doi: 10.1136/jmg.31.6.486.

Abstract

Costello syndrome is emerging as a better delineated condition and should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. We present a further case of Costello syndrome which illustrates the natural history of this condition.

摘要

科斯特洛综合征正逐渐成为一种界定更清晰的病症,对于伴有出生后生长迟缓及发育迟缓的皮肤松弛症,应将其纳入鉴别诊断。我们报告了另一例科斯特洛综合征病例,该病例说明了这种病症的自然病程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f5e/1049929/04c9d1e7e51c/jmedgene00285-0063-a.jpg

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