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PubMed · 10591957

[Restrictive dermopathy].

C Gross·I Hausser·A von der Wense·C Langner·W Simoens·O Bau·R Rompel·W Meyer·J Rüschoff
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Abstract

Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.

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Abnormalities, MultipleAdultChromosome AberrationsChromosome DisordersEctodermal DysplasiaFemaleGenes, RecessiveHumansInfant, NewbornMicroscopy, ElectronSkinSkin Diseases, GeneticCase ReportsEnglish AbstractJournal Article

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C Gross, I Hausser, A von der Wense, C Langner, W Simoens, O Bau, R Rompel, W Meyer, J Rüschoff. 1999. [Restrictive dermopathy].. https://doi.org/10.1007/s002920050373

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