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

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.

• Authors: D Bick, C J Curry, J R McGill, D F Schorderet, R C Bux, C M Moore
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 33 Issue 1 Pg. 100-7 (May 1989) ISSN: 0148-7299 [Print] United States
• PMID: 2750777 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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