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

Détails

ID Serval
serval:BIB_EFA90683246F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
Périodique
American Journal of Medical Genetics
Auteur(s)
Bick  D., Curry  C. J., McGill  J. R., Schorderet  D. F., Bux  R. C., Moore  C. M.
ISSN
0148-7299 (Print)
Statut éditorial
Publié
Date de publication
05/1989
Volume
33
Numéro
1
Pages
100-7
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
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.
Mots-clé
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
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
03/03/2018 22:35
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