Article
False-negative prenatal diagnosis of restrictive dermopathy.
American journal of medical genetics - 1 Dec 1992
Hamel B C, Happle R, Steylen P M, Kollée L A, Stekhoven J H, Nijhuis J G, Rauskolb R, Anton-Lamprecht I
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Biopsy
- Contracture
- Face
- False Negative Reactions
- Female
- Fetal Diseases
- Genes, Lethal
- Genes, Recessive
- Humans
- Hypertelorism
- Infant, Newborn