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短指（趾）症与多指（趾）症伴皮嵴分离和嵴发育不全。

Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

作者信息

Crawfurd M D, Saldaña-Garcia P

出版信息

J Med Genet. 1979 Oct;16(5):402-5. doi: 10.1136/jmg.16.5.402.

DOI:10.1136/jmg.16.5.402
PMID:513089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012620/
Abstract

A child with brachymesophalangy and postaxial postminimal polydactyly was found also to have dermal ridge dissociation and ridge hypoplasia. She was the second child of unaffected, unrelated parents and was born after a normal pregnancy and delivery. No previous report of a similar combination has been traced.

摘要

一名患有短中节指骨和轴后微小多指畸形的儿童还被发现有皮嵴分离和嵴发育不全。她是一对健康、无血缘关系父母的第二个孩子，孕期和分娩均正常。此前未发现有类似组合的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/dc95609fc860/jmedgene00294-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/62a145e7e5e1/jmedgene00294-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/7260d8158309/jmedgene00294-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/dc95609fc860/jmedgene00294-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/62a145e7e5e1/jmedgene00294-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/7260d8158309/jmedgene00294-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5234/1012620/dc95609fc860/jmedgene00294-0077-a.jpg

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本文引用的文献

1
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.阿米什人中的侏儒症。一、埃利斯-范克里弗德综合征。
Bull Johns Hopkins Hosp. 1964 Oct;115:306-36.
2
KINDRED SHOWING CONGENITAL ABSENCE OF THE DERMAL RIDGES (FINGERPRINTS) AND ASSOCIATED ANOMALIES.
J Pediatr. 1964 May;64:621-31. doi: 10.1016/s0022-3476(64)80610-7.
3
Genetics of patternless finger dermatoglyph.无指纹皮纹的遗传学
Jinrui Idengaku Zasshi. 1961 Oct;6:102-17.
4
Familial absence of middle phalanges with nail dysplasia: a new syndrome.伴有指甲发育异常的家族性中节指骨缺失：一种新综合征。
Pediatrics. 1968 Aug;42(2):318-23.
5
Dominant preaxial brachydactyly with hallux varus and thumb abduction.伴有拇内翻和拇指外展的显性轴前短指畸形
Am J Hum Genet. 1972 Nov;24(6 Pt 1):694-701.
6
Hereditary brachydactyly associated with hypertension.与高血压相关的遗传性短指畸形。
J Med Genet. 1973 Sep;10(3):253-9. doi: 10.1136/jmg.10.3.253.
7
A pedigree with unusual anomalies of the elbows, wrists and hands in five generations.一个五代人中存在肘部、手腕和手部异常的家系。
S Afr Med J. 1973 May 5;47(17):745-8.
8
Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.短指畸形、远端指骨融合、脊柱侧凸、身材高大及摇椅底足：一种新综合征。
J Med Genet. 1978 Jun;15(3):208-11. doi: 10.1136/jmg.15.3.208.
9
Hereditary brachydactyly with nail dysplasia.伴有指甲发育异常的遗传性短指畸形。
J Med Genet. 1978 Apr;15(2):119-22. doi: 10.1136/jmg.15.2.119.