Literature DB >> 9286026

Restrictive dermopathy and associated prenatal ultrasound findings: case report.

J G van der Stege1, H L van Straaten, A C van der Wal, J van Eyck.   

Abstract

Restrictive dermopathy is a lethal autosomal recessive skin disease. Prenatal diagnosis has not yet been reported. We present a case of restrictive demography and describe the associated prenatal sonographic findings. A continuously open mouth was the most striking feature and this sonographic finding may be a marker of a skin disease.

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Year:  1997        PMID: 9286026     DOI: 10.1046/j.1469-0705.1997.10020140.x

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  3 in total

1.  Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Authors:  Z Ahmad; S R Phadke; E Arch; J Glass; A K Agarwal; A Garg
Journal:  Clin Genet       Date:  2010-11-25       Impact factor: 4.438

Review 2.  Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

Authors:  E A Anum; L D Hill; A Pandya; J F Strauss
Journal:  Placenta       Date:  2009-01-18       Impact factor: 3.481

Review 3.  Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Authors:  Paulo Morais; Sofia Magina; Maria do Céu Ribeiro; Manuela Rodrigues; José Manuel Lopes; Huong Le Thi Thanh; Manfred Wehnert; Hercília Guimarães
Journal:  Eur J Pediatr       Date:  2008-11-20       Impact factor: 3.183

  3 in total

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