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亚当斯-奥利弗综合征:一例完全表现型病例。

Adams-Oliver Syndrome: A Case with Full Expression.

作者信息

Dehdashtian Amir, Dehdashtian Masoud

机构信息

Ahvaz Jundishapur University of Medical Sciences , Iran.

出版信息

Pediatr Rep. 2016 Jun 27;8(2):6517. doi: 10.4081/pr.2016.6517. eCollection 2016 Jun 15.

DOI:10.4081/pr.2016.6517
PMID:27433307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4933813/
Abstract

Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weight gain. A male infant with scalp and skin cutis aplasia, generalized cutis aplasia, dilated veins over scalp and trunk, hypoplastic toes and nails of feet, glaucoma, poor feeding and poor weight gain. This report shows a case of AOS without major multiple organ abnormalities but with poor feeding and abnormal weight gain that may be alter the normal lifespan.

摘要

亚当斯-奥利弗综合征(AOS)的特征是先天性头皮缺损(先天性皮肤发育不全)和严重程度不一的末端横向肢体缺损同时存在。据信,没有主要器官异常的亚当斯-奥利弗综合征不一定会改变正常寿命。我们报告一例与生命相悖但无明显主要器官异常但体重增加不佳的病例。一名男婴,有头皮和皮肤发育不全、全身性皮肤发育不全、头皮和躯干静脉扩张、足部趾和指甲发育不全、青光眼、喂养困难和体重增加不佳。本报告展示了一例无多个主要器官异常但有喂养困难和体重增加异常的亚当斯-奥利弗综合征病例,这可能会改变正常寿命。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/57cad9f11c86/pr-2016-2-6517-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/7ac937c77fe1/pr-2016-2-6517-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/ea84b2a46fc5/pr-2016-2-6517-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/c232a7914eb5/pr-2016-2-6517-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/57cad9f11c86/pr-2016-2-6517-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/7ac937c77fe1/pr-2016-2-6517-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/ea84b2a46fc5/pr-2016-2-6517-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/c232a7914eb5/pr-2016-2-6517-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2854/4933813/57cad9f11c86/pr-2016-2-6517-g004.jpg

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本文引用的文献

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Adams-Oliver syndrome.亚当斯-奥利弗综合征
Int J Dermatol. 2014 Mar;53(3):352-4. doi: 10.1111/j.1365-4632.2012.05533.x. Epub 2013 Dec 10.
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Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects.亚当斯-奥利弗综合征。一例孤立性先天性皮肤发育不全伴骨骼缺陷的病例。
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A case of adams-oliver syndrome.一例亚当斯-奥利弗综合征病例。
亚当斯-奥利弗综合征:一种罕见的先天性疾病。
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Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant.患有中枢神经系统异常、癫痫和发育迟缓的同胞中的亚当斯-奥利弗综合征:细化一种严重常染色体隐性变异的特征
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Adams-Oliver syndrome: a case with complete expression.亚当斯-奥利弗综合征:一例完全表现型病例。
J Dermatol. 2006 Jun;33(6):435-6. doi: 10.1111/j.1346-8138.2006.00104.x.
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Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.周细胞募集异常作为亚当斯-奥利弗综合征肺动脉高压的一个病因
Am J Med Genet A. 2004 Sep 1;129A(3):294-9. doi: 10.1002/ajmg.a.30221.
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Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
Eur J Hum Genet. 2003 Jun;11(6):457-63. doi: 10.1038/sj.ejhg.5200980.
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Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases.
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Vascular abnormalities in Adams-Oliver syndrome: cause or effect?
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