title: False-negative prenatal diagnosis of restrictive dermopathy.
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.
authors: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
authors: B C
authors: BC
authors: Hamel
authors: R
authors: R
authors: Happle
authors: P M
authors: PM
authors: Steylen
authors: L A
authors: LA
authors: Kollée
authors: J H
authors: JH
authors: Stekhoven
authors: J G
authors: JG
authors: Nijhuis
authors: R
authors: R
authors: Rauskolb
authors: I
authors: I
authors: Anton-Lamprecht
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001706:Biopsy; D003286:Contracture / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005188:False Negative Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D012867:Skin / Q000196:embryology / Q000473:pathology*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology