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具有明显形态学异常的限制性皮肤病

Restrictive dermopathy with distinct morphological abnormalities.

作者信息

Van Hoestenberghe M, Legius E, Vandevoorde W, Eykens A, Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns J P

机构信息

Department of Pediatrics, University of Leuven, Belgium.

出版信息

Am J Med Genet. 1990 Jul;36(3):297-300. doi: 10.1002/ajmg.1320360310.

DOI:10.1002/ajmg.1320360310
PMID:2363426
Abstract

A newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.

摘要

一名新生儿因限制性皮肤病变而出现胎儿运动减少序列征。该婴儿的显著表现为乳牙萌出及存活至4个月龄。皮肤超微结构检查显示表皮变薄且无弹性纤维。

相似文献

1
Restrictive dermopathy with distinct morphological abnormalities.具有明显形态学异常的限制性皮肤病
Am J Med Genet. 1990 Jul;36(3):297-300. doi: 10.1002/ajmg.1320360310.
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Restrictive dermopathy in two brothers.
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Am J Med Genet. 1986 Aug;24(4):631-48. doi: 10.1002/ajmg.1320240408.
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False-negative prenatal diagnosis of restrictive dermopathy.
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[Restrictive dermopathy: a rare, lethal genodermatosis].
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Restrictive dermopathy: a lethal congenital skin disorder.
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引用本文的文献

1
Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia.限制性皮病：一名患有皮肤紧绷、面部畸形、关节挛缩和肺发育不全的婴儿。
JAAD Case Rep. 2022 Oct 13;30:41-43. doi: 10.1016/j.jdcr.2022.09.033. eCollection 2022 Dec.
2
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.限制性皮病——一种致死性先天性核纤层蛋白病。病例报告及文献综述。
Eur J Pediatr. 2009 Aug;168(8):1007-12. doi: 10.1007/s00431-008-0868-x. Epub 2008 Nov 20.
3
Restrictive dermopathy: a lethal congenital skin disorder.
Eur J Pediatr. 1993 Feb;152(2):95-8. doi: 10.1007/BF02072481.