Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

D. Bick, C. J.R. Curry, J. R. McGill, D. F. Schorderet, R. C. Bux, C. M. Moore

Research output: Contribution to journalArticle

46 Scopus citations

Abstract

We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and X-linked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to this region of the X chromosome and represents an example of a 'contiguous gene syndrome'. A comparison of the manifestations of patients with CPXR, warfarin embryopathy, and vitamin K epoxide reductase deficiency shows a remarkable similarity. However, vitamin K epoxide reductase deficiency does not appear to be the cause of CPXR. We propose that CPXR may be due to a defect in a vitamin K-dependent bone protein such as vitamin K-dependent bone carboxylase, osteocalcin, or matrix Gla protein.

Original languageEnglish (US)
Pages (from-to)100-107
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume33
Issue number1
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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