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三名患有先天性心脏病、圆脸伴鼻梁凹陷、身材矮小和发育迟缓的同胞中出现了一种新的可识别综合征。

A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.

作者信息

Sonoda T, Ohdo S, Madokoro H, Ohba K

机构信息

Department of Pediatrics, Miyazaki Medical College, Japan.

出版信息

J Med Genet. 1988 Oct;25(10):711-3. doi: 10.1136/jmg.25.10.711.

DOI:10.1136/jmg.25.10.711
PMID:3225826
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051567/
Abstract

We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.

摘要

我们报告了三名患有先天性心脏病的同胞,他们圆脸、鼻梁凹陷、嘴巴小、身材矮小、发育迟缓、皮肤相对较黑且轴三叉点高。三名患者的染色体正常,其父母无亲缘关系、身体健康且智力正常。母亲否认在每次怀孕期间有感染、饮酒、吸毒或接触已知致畸剂的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/e19a3ad720d0/jmedgene00072-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/f3b11be3a1e0/jmedgene00072-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/b3d383852010/jmedgene00072-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/e19a3ad720d0/jmedgene00072-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/f3b11be3a1e0/jmedgene00072-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/b3d383852010/jmedgene00072-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec0c/1051567/e19a3ad720d0/jmedgene00072-0065-a.jpg

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A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.三名患有先天性心脏病、圆脸伴鼻梁凹陷、身材矮小和发育迟缓的同胞中出现了一种新的可识别综合征。
J Med Genet. 1988 Oct;25(10):711-3. doi: 10.1136/jmg.25.10.711.
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本文引用的文献

1
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.一名具有威廉姆斯综合征表型特征的婴儿,其4号染色体长臂存在末端缺失[46,XX,del(4)(q33)] 。
J Med Genet. 1986 Oct;23(5):474-7. doi: 10.1136/jmg.23.5.474.
2
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.同胞中出现的严重面中部回缩、多发颅骨异常、马蹄内翻足以及心脏和肾脏畸形综合征。
Am J Med Genet. 1978;1(4):361-75. doi: 10.1002/ajmg.1320010402.