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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion
Author(s) -
Bick David P.,
Schorderet Daniel F.,
Price Paul A.,
Campbell Leslie,
Huff Robert W.,
Shapiro Larry J.,
Moore Charleen M.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120104
Subject(s) - chondrodysplasia punctata , kallmann syndrome , ichthyosis , steroid sulfatase , endocrinology , fetus , prenatal diagnosis , klinefelter syndrome , x chromosome , peroxisomal disorder , medicine , biology , genetics , pregnancy , gene , disease , steroid , peroxisome , covid-19 , hormone , infectious disease (medical specialty) , receptor
We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.