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新发现的肢体/骨盆发育不全/发育不全综合征的病理特征及产前诊断

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

作者信息

Raas-Rothschild A, Goodman R M, Meyer S, Katznelson M B, Winter S T, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S

机构信息

Department of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

出版信息

J Med Genet. 1988 Oct;25(10):687-97. doi: 10.1136/jmg.25.10.687.

DOI:10.1136/jmg.25.10.687
PMID:3066902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051563/
Abstract

A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

摘要

报道了第二个患有常染色体隐性疾病（现称为肢体/骨盆发育不全/发育不全综合征）的家族。据推测，这种罕见骨骼发育不良的基因可能局限于中东基因库。通过超声检查已证实，在有患病风险的妊娠中可以进行产前诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/f703ca73053a/jmedgene00072-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/e3fe1382c541/jmedgene00072-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/4185194af887/jmedgene00072-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/de8f436ec567/jmedgene00072-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/d78c23ae9738/jmedgene00072-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/d11782a35b62/jmedgene00072-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/46ec76d81517/jmedgene00072-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/dbfb38ca8129/jmedgene00072-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/c50925340a05/jmedgene00072-0047-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/b630972e8ea2/jmedgene00072-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/f703ca73053a/jmedgene00072-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/e3fe1382c541/jmedgene00072-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/4185194af887/jmedgene00072-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/de8f436ec567/jmedgene00072-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/d78c23ae9738/jmedgene00072-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/d11782a35b62/jmedgene00072-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/46ec76d81517/jmedgene00072-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/dbfb38ca8129/jmedgene00072-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/c50925340a05/jmedgene00072-0047-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/b630972e8ea2/jmedgene00072-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d09/1051563/f703ca73053a/jmedgene00072-0048-b.jpg

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本文引用的文献

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Am J Med Genet. 1981;9(1):31-41. doi: 10.1002/ajmg.1320090108.
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