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 journalArticle

26 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 (US)
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

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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    Bick, D. P., Schorderet, D. F., Price, P. A., Campbell, L., Huff, R. W., Shapiro, L. J., & Moore, C. M. (1992). Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Prenatal Diagnosis, 12(1), 19-29. https://doi.org/10.1002/pd.1970120104