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致死性短肋多指综合征:其在连续谱系中重叠的进一步证据。

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

作者信息

Martínez-Frías M L, Bermejo E, Urioste M, Huertas H, Arroyo I

机构信息

ECEMC Coordinating Group, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

出版信息

J Med Genet. 1993 Nov;30(11):937-41. doi: 10.1136/jmg.30.11.937.

Abstract

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.

摘要

我们报告了两名患有短肋多指综合征(SRPS)的无血缘关系的新生儿,他们的临床和放射学特征与四种已确定的致死性SRPS类型重叠,因此难以将他们归类为任何一种特定类型。其中一名婴儿的放射学表现是有史以来报道过的最严重的SRPS之一。本文所报告的患者支持了先前报道的假说,即这组疾病可能是一个连续谱,而非独立的实体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bf/1016603/f3651c4fa148/jmedgene00013-0054-a.jpg

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