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False-negative prenatal diagnosis of restrictive dermopathy
B C Hamel1, R Happle, P M Steylen
1Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
American Journal of Medical Genetics
|December 1, 1992
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.
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.