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

Am J Med Genet. 1989 May;33(1):100-7. doi: 10.1002/ajmg.1320330114.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chondrodysplasia Punctata / genetics*
  • Chromosome Deletion
  • Chromosome Mapping
  • Genetic Linkage
  • Humans
  • Hypogonadism / genetics*
  • Ichthyosis / genetics*
  • Infant
  • Male
  • Mixed Function Oxygenases / metabolism
  • Olfaction Disorders / genetics
  • Olfactory Bulb / abnormalities
  • Sulfatases / metabolism
  • Syndrome
  • Vitamin K / metabolism
  • Vitamin K Epoxide Reductases
  • X Chromosome


  • Vitamin K
  • Mixed Function Oxygenases
  • Vitamin K Epoxide Reductases
  • Sulfatases