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Case Reports
. 1992 Dec 1;44(6):824-6.
doi: 10.1002/ajmg.1320440622.

False-negative prenatal diagnosis of restrictive dermopathy

B C Hamel  1 , R Happle, P M Steylen, L A Kollée, J H Stekhoven, J G Nijhuis, R Rauskolb, I Anton-Lamprecht
Affiliations
Case Reports

False-negative prenatal diagnosis of restrictive dermopathy

B C Hamel et al. Am J Med Genet. .

Abstract

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.

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