Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Gross, C; Hausser, I; von der Wense, A; Langner, C; Simoens, W; Bau, O; Rompel, R; Meyer, W; Rüschoff, J.
Restrictive dermopathy
Pathologe. 1999; 20(6):365-370
Doi: 10.1007/s002920050373
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Langner Cord
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology
- Adult -
- Chromosome Aberrations - genetics
- Chromosome Disorders -
- Ectodermal Dysplasia - genetics Ectodermal Dysplasia - pathology
- Female -
- Genes, Recessive - genetics
- Humans -
- Infant, Newborn -
- Microscopy, Electron -
- Skin - pathology
- Skin Diseases, Genetic - genetics Skin Diseases, Genetic - pathology
- Find related publications in this database (Keywords)
- restrictive dermopathy
- autosomal recessive genodermatosis
- fetal akinesia/hypokinesia deformation sequence arthrogryposis
- polyhydramnios