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无舌-无指(趾)综合征

Aglossia-adactylia syndrome.

作者信息

Nevin N C, Burrows D, Allen G, Kernohan D C

出版信息

J Med Genet. 1975 Mar;12(1):89-93. doi: 10.1136/jmg.12.1.89.

DOI:10.1136/jmg.12.1.89
PMID:1121025
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013236/
Abstract

Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.

摘要

两名男性患者,年龄分别为31岁和21岁,被诊断患有无舌-无指(趾)畸形。包括之前报道的一例病例(内文、道奇和克诺汉,1970年),北爱尔兰共有三名患有该综合征的患者。病因不明,但尽管临床表现差异极大,也不能排除显性突变基因的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/9ec3e9ec65ab/jmedgene00314-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/3b107a39c03e/jmedgene00314-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/fc0ea2f3ab03/jmedgene00314-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/d38547d05446/jmedgene00314-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/8aebb5a69ba2/jmedgene00314-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/3df3bced3333/jmedgene00314-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/9ec3e9ec65ab/jmedgene00314-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/3b107a39c03e/jmedgene00314-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/fc0ea2f3ab03/jmedgene00314-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/d38547d05446/jmedgene00314-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/8aebb5a69ba2/jmedgene00314-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/3df3bced3333/jmedgene00314-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f649/1013236/9ec3e9ec65ab/jmedgene00314-0096-a.jpg

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