Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
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.
Bick
D
D
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284.
Curry
C J
CJ
McGill
J R
JR
Schorderet
D F
DF
Bux
R C
RC
Moore
C M
CM
D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D008297:Male; D006899:Mixed Function Oxygenases / Q000378:metabolism; D000857:Olfaction Disorders / Q000235:genetics; D009830:Olfactory Bulb / Q000002:abnormalities; D013429:Sulfatases / Q000378:metabolism; D013577:Syndrome; D014812:Vitamin K / Q000378:metabolism; D064417:Vitamin K Epoxide Reductases; D014960:X Chromosome
D014812:Vitamin K; D006899:Mixed Function Oxygenases; D064417:Vitamin K Epoxide Reductases; D013429:Sulfatases