Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Placental sulfatase deficiency and congenital ichthyosis are two manifestations of an X-linked recessive inborn error of metabolism. This uncommon disorder can be diagnosed antenatally by maternal urinary steroid assays. A case with an affected sibling is presented, and the disorder's association with fetal death and failure to induce labor is discussed.
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Department of Obstetrics and Gynaecology, Llandough Hospital, Penarth, Cardiff, Wales, United Kingdom.
Johansen
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D000328:Adult; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000209:etiology* / Q000235:genetics; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D013429:Sulfatases