[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)]

J Gynecol Obstet Biol Reprod (Paris). 1979;8(6):533-7.
[Article in French]

Abstract

The diagnosis of placental sulfatase deficiency was made at the same time in two sisters who were pregnant. This is the first case history reported of two women who were carriers of this abnormality and who were linked by parentage. The inborn error of metabolism was able to be found in its post-natal state in two of the sons of one of the women in the form of retention cutaneous ichthyosis of a sex-linked type.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Estrogens / urine
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Ichthyosis / genetics*
  • Infant, Newborn
  • Male
  • Pedigree
  • Placenta / enzymology*
  • Pregnancy
  • Progestins / urine
  • Sex Factors
  • Sulfatases / deficiency*
  • X Chromosome

Substances

  • Estrogens
  • Progestins
  • Sulfatases