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. © 1992 Wiley-Liss, Inc.

References

Gillerot Y, Koulischer L (1987): Restrictive dermopathy. Am J Med Genet 27: 239–240.
10.1002/ajmg.1320270131
CAS PubMed Web of Science® Google Scholar
Holbrook KA, Dale BA, Witt DR, Hayden MR, Toriello HV (1987): Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). J Invest Dermatol 88: 330–339.
10.1111/1523-1747.ep12466219
CAS PubMed Web of Science® Google Scholar
Lowry RB, Machin GA, Morgan K, Mayock D, Marx L (1985): Congenital contractures, edema, hyperkeratosis and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet 22: 531–543.
10.1002/ajmg.1320220311
CAS PubMed Web of Science® Google Scholar
Mok Q, Curley R, Tolmie JL, Marsden RA, Patton MA, Davies EG (1990): Restrictive dermopathy: A report of three cases. J Med Genet 27: 315–319.
10.1136/jmg.27.5.315
CAS PubMed Web of Science® Google Scholar
Toriello HV (1986): Invited editorial comment: Restrictive dermopathy and report of another case. Am J Med Genet 24: 625–629.
10.1002/ajmg.1320240407
CAS PubMed Web of Science® Google Scholar
Van Hoestenberghe M, Legius E, Vandevoorde W, Eykens A, Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns JP (1990): Restrictive dermopathy with distinct morphological abnormalities. Am J Med Genet 36: 297–300.
10.1002/ajmg.1320360310
CAS PubMed Web of Science® Google Scholar
Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP (1986): Restrictive Dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 24: 631–648.
10.1002/ajmg.1320240408
CAS PubMed Web of Science® Google Scholar

Citing Literature

Volume44, Issue6

1 December 1992

Pages 824-826

False-negative prenatal diagnosis of restrictive dermopathy

Abstract

References

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

False-negative prenatal diagnosis of restrictive dermopathy

Abstract

References

Citing Literature

References

Related

Information