False-negative prenatal diagnosis of restrictive dermopathy.
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.
Hamel
B C
BC
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Happle
R
R
Steylen
P M
PM
Kollée
L A
LA
Stekhoven
J H
JH
Nijhuis
J G
JG
Rauskolb
R
R
Anton-Lamprecht
I
I
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