TY - JOUR
T1 - Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
AU - Bick, D.
AU - Curry, C. J.R.
AU - McGill, J. R.
AU - Schorderet, D. F.
AU - Bux, R. C.
AU - Moore, C. M.
PY - 1989/1/1
Y1 - 1989/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0024339257&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024339257&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320330114
DO - 10.1002/ajmg.1320330114
M3 - Article
C2 - 2750777
AN - SCOPUS:0024339257
VL - 33
SP - 100
EP - 107
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -