Hamel B C, Happle R, Steylen P M, Kollée L A, Stekhoven J H, Nijhuis J G, Rauskolb R, Anton-Lamprecht I
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Am J Med Genet. 1992 Dec 1;44(6):824-6. doi: 10.1002/ajmg.1320440622.
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.
