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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.

DOI:10.1136/jmg.23.1.64
PMID:3950937
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049544/
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/e991114aea32/jmedgene00087-0074-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/658e82fa9d12/jmedgene00087-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/06222e23560f/jmedgene00087-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/3a1081e67d93/jmedgene00087-0071-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/096a6b55173a/jmedgene00087-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/877a24e47d2b/jmedgene00087-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/ea2d1f2990f0/jmedgene00087-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/700317fe5e13/jmedgene00087-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/10873e2caa39/jmedgene00087-0074-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/06222e23560f/jmedgene00087-0071-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/096a6b55173a/jmedgene00087-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/877a24e47d2b/jmedgene00087-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/ea2d1f2990f0/jmedgene00087-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/700317fe5e13/jmedgene00087-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/10873e2caa39/jmedgene00087-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/63604e7aa99c/jmedgene00087-0074-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c2b/1049544/e991114aea32/jmedgene00087-0074-c.jpg

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本文引用的文献

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Acta Paediatr Suppl (Upps). 1955 Nov;44(Suppl 104):7-110.
2
Further delineation of the C (trigonocephaly) syndrome.C（三角头畸形）综合征的进一步描述。
Am J Med Genet. 1981;9(2):147-63. doi: 10.1002/ajmg.1320090209.
3
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.
J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7.
4
Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response.阻断胆固醇合成会损害经典条件反射性眨眼反应的习得。
Integr Physiol Behav Sci. 2000 Apr-Jun;35(2):120-31. doi: 10.1007/BF02688771.
5
The Smith-Lemli-Opitz syndrome.史密斯-勒米-奥皮茨综合征
J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321.
6
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.史密斯-勒米-奥皮茨综合征由7-脱氢胆固醇还原酶基因突变引起。
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Lethal femoral-facial syndrome: a case with unusual manifestations.致死性股骨面部综合征：一例具有不寻常表现的病例。
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Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.致死性肢端生殖器发育不全：一种类似史密斯-利姆利-奥皮茨综合征的严重致死性病症。
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