Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

David P. Bick, Daniel F. Schorderet, Paul A. Price, Leslie Campbell, Robert W. Huff, Larry J. Shapiro, Charleen M. Moore

    Research output: Contribution to journalArticlepeer-review

    28 Scopus citations

    Abstract

    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.

    Original languageEnglish
    Pages (from-to)19-29
    Number of pages11
    JournalPrenatal Diagnosis
    Volume12
    Issue number1
    DOIs
    StatePublished - Jan 1992

    Keywords

    • Chondrodysplasia punctata
    • Kallmann syndrome
    • Neuronal migration
    • Steroid sulphatase deficiency
    • Vitamin K

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