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[与唐氏综合征相关的点状软骨发育不良。病例报告及文献复习]

[Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature].

作者信息

Hernández J, Salas S, Pastor I, Quero J, Collado F, Omeñaca F

机构信息

Servicio de Neonatología, Hospital Infantil La Paz, Universidad Autónoma, Madrid.

出版信息

An Esp Pediatr. 1988 Feb;28(2):145-7.

PMID:2965538
Abstract

A case of chromosomic aberration and chondrodysplasia punctata is presented. Nine similar have been previously reported being this case first described in Spain. Hypothesis arouse from these observations suggest that they are different entities but also permit to include bone alterations among chromosomic aberration signs.

摘要

本文报告了一例染色体畸变与点状软骨发育不良的病例。此前已报道过9例类似病例，此为西班牙首次描述的病例。基于这些观察结果提出的假设表明，它们是不同的实体，但也允许将骨骼改变纳入染色体畸变体征之中。

相似文献

1
[Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature].[与唐氏综合征相关的点状软骨发育不良。病例报告及文献复习]
An Esp Pediatr. 1988 Feb;28(2):145-7.
2
[Unusual clinical association: chondrodystrophia calcificans congenita and Down's syndrome].[罕见临床关联：先天性钙化性软骨发育不良与唐氏综合征]
Pediatria (Napoli). 1973 Jun 30;81(2):346-54.
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[Association of stippled epiphyses and trisomy 21 in a newborn infant].[一名新生儿点状骨骺与21三体综合征的关联]
Arch Fr Pediatr. 1968 Oct;25(8):958-9.
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[Perforated appendicitis in a newborn infant associated with Down's syndrome. Review of the literature].[一名患有唐氏综合征的新生儿的穿孔性阑尾炎。文献综述]
Pediatr Med Chir. 1986 Jan-Feb;8(1):113-4.
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[Concerning the little observed dysplasia in mongolism (Langdon Down)].[关于蒙古症（朗顿·唐）中鲜为人知的发育异常]
Nervenarzt. 1967 Apr;38(4):177-80.
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[Alcohol embryopathy with symptomatic chondrodysplasia punctata. The 4th published case].[伴有症状性点状软骨发育不良的酒精胚胎病。第4例报道病例]
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J Genet Hum. 1989 Dec;37(4-5):395-9.
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[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].点状软骨发育不良（康拉迪 - 许纳曼综合征）。一例临床病例报告及文献综述
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Chondrodysplasia punctata: case report and review of audiological and ENT features.点状软骨发育不良：病例报告及听力学与耳鼻喉科特征综述
J Laryngol Otol. 2006 Mar;120(3):233-6. doi: 10.1017/S002221510500472X. Epub 2005 Nov 25.
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[Autosomal dominant chondrodysplasia punctata with laryngo-tracheal calcification. Presentation of 2 cases].[伴有喉气管钙化的常染色体显性点状软骨发育不良。2例报告]
Pathologica. 1985 Nov-Dec;77(1052):693-8.

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