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一种具有肢端肥大样面容和全身性终毛增多的常染色体显性综合征。

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

作者信息

Irvine A D, Dolan O M, Hadden D R, Stewart F J, Bingham E A, Nevin N C

机构信息

Department of Medical Genetics, Belfast City Hospital, Northern Ireland.

出版信息

J Med Genet. 1996 Nov;33(11):972-4. doi: 10.1136/jmg.33.11.972.

DOI:10.1136/jmg.33.11.972
PMID:8950682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050796/
Abstract

We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.

摘要

我们报告了一个家族，其中肢端肥大症样面容（AFA）和全身性终毛增多症的表型在三代人中呈现分离现象。先天性终毛增多症和AFA先前已被报道为独立的常染色体显性性状。这是首次描述该联合表型常染色体显性遗传的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/2aa6491c36f0/jmedgene00265-0085-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/6bd0217eb6d4/jmedgene00265-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/31120a706321/jmedgene00265-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/79b0041e4ef6/jmedgene00265-0085-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/2aa6491c36f0/jmedgene00265-0085-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/6bd0217eb6d4/jmedgene00265-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/31120a706321/jmedgene00265-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/79b0041e4ef6/jmedgene00265-0085-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce97/1050796/2aa6491c36f0/jmedgene00265-0085-c.jpg

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坎图综合征合并家族性垂体腺瘤。
Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11.
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Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.4q26-27 染色体上的拷贝数变异与坎图综合征有关。
Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.
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["Die grosse Barb" in the museum of the University of Marburg. An early documentation of acromegaly].马尔堡大学博物馆中的“大胡子芭芭拉”。肢端肥大症的早期记录
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Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy.
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Heterogeneity in gingival fibromatosis.牙龈纤维瘤病的异质性。
Birth Defects Orig Artic Ser. 1971 Jun;7(7):210-21.
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Idiopathic gingival hyperplasia and hypertrichosis associated with acromegaloid features.与肢端肥大样特征相关的特发性牙龈增生和多毛症。
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Double lip and double lip with blepharochalasis (Ascher's syndrome).双唇及双唇伴睑皮松弛症（阿舍尔综合征）。
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8
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