Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
Details
Serval ID
serval:BIB_EFA90683246F
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
Journal
American Journal of Medical Genetics
ISSN
0148-7299 (Print)
Publication state
Published
Issued date
05/1989
Volume
33
Number
1
Pages
100-7
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
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.
Keywords
Chondrodysplasia Punctata/*genetics
Chromosome Deletion
Chromosome Mapping
Humans
Hypogonadism/*genetics
Ichthyosis/*genetics
Infant
Linkage (Genetics)
Male
Mixed Function Oxygenases/metabolism
Olfaction Disorders/genetics
Olfactory Bulb/abnormalities
Sulfatases/metabolism
Syndrome
Vitamin K/metabolism
X Chromosome
Pubmed
Web of science
Create date
28/01/2008 13:59
Last modification date
20/08/2019 17:17