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多指(趾)、性反转、肾发育不全和单叶肺的致死性多发性先天性异常综合征。

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

作者信息

Donnai D, Young I D, Owen W G, Clark S A, Miller P F, Knox W F

出版信息

J Med Genet. 1986 Feb;23(1):64-71. doi: 10.1136/jmg.23.1.64.

Abstract

Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.

摘要

报告了三例致死性多发性先天性异常综合征病例。这些婴儿有中度肢体缩短、关节挛缩、多指畸形,且两名核型为男性的婴儿有女性外生殖器。内部异常包括单叶肺、舌前部发育不全和肾发育不全。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/658e82fa9d12/jmedgene00087-0070-a.jpg

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