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

Publisher Website
Google Scholar
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.