Male siblings with tibia-metacarpal type of chondrodysplasia punctata without maternal factors

被引:3
|
作者
Honda, Rie [1 ]
Ichiyama, Takashi [1 ]
Maeba, Shinji [1 ]
Sunagawa, Shinpel [1 ]
Furukawa, Susumu [1 ]
机构
[1] Yamaguchi Univ, Grad Sch Med, Dept Pediat, Yamaguchi 7558505, Japan
来源
BRAIN & DEVELOPMENT | 2008年 / 30卷 / 04期
关键词
chondrodysplasia punctata; short tibiae; stippling calcification; tibia-metacarpal type;
D O I
10.1016/j.braindev.2007.09.003
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report male siblings with tibia-metacarpal type of chondrodysplasia punctata, which was diagnosed by radiographic findings and clinical appearances. This is the first report of siblings without maternal systemic lupus erythematosus or medications during both pregnancies. (c) 2007 Elsevier B.V. All rights reserved.
引用
收藏
页码:301 / 304
页数:4
相关论文
共 15 条
  • [1] CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL (MT) TYPE
    RITTLER, M
    MENGER, H
    SPRANGER, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02): : 200 - 208
  • [2] A NEWBORN CASE OF CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE
    MATSUI, M
    HONMA, Y
    OGURO, N
    SHIRAISHI, H
    KOBAYASHI, S
    YANAGISAWA, M
    NAKAMURA, K
    BRITISH JOURNAL OF RADIOLOGY, 1994, 67 (793): : 97 - 99
  • [3] Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type
    Argo, KM
    Toriello, HV
    Jelsema, RD
    Zuidema, LJ
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1996, 8 (05) : 350 - 354
  • [4] Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy
    Wester, U
    Brandberg, G
    Larsson, M
    Lönnerholm, T
    Annerén, G
    PRENATAL DIAGNOSIS, 2002, 22 (08) : 663 - 668
  • [5] Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history
    Savarirayan, R
    Boyle, RJ
    Masel, J
    Rogers, JG
    Sheffield, LJ
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (02): : 148 - 157
  • [6] Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction
    Miyazaki, Osamu
    Nishimura, Gen
    Sago, Haruhiko
    Watanabe, Noriyoshi
    Ebina, Shunsuke
    PEDIATRIC RADIOLOGY, 2007, 37 (11) : 1151 - 1154
  • [7] Chondrodysplasia punctata in siblings and maternal lupus erythematosus
    Kozlowski, K
    Basel, D
    Beighton, P
    CLINICAL GENETICS, 2004, 66 (06) : 545 - 549
  • [8] Prenatal diagnosis of chondrodysplasia punctata tibia–metacarpal type using multidetector CT and three-dimensional reconstruction
    Osamu Miyazaki
    Gen Nishimura
    Haruhiko Sago
    Noriyoshi Watanabe
    Shunsuke Ebina
    Pediatric Radiology, 2007, 37 : 1151 - 1154
  • [9] Chondrodysplasia punctata, humero-metacarpal type: A second case
    Fryburg, JS
    Kelly, TE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (03): : 493 - 496
  • [10] Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus
    Jansen, V
    Sarafoglou, K
    Rebarber, A
    Greco, A
    Genieser, NB
    Wallerstein, R
    JOURNAL OF ULTRASOUND IN MEDICINE, 2000, 19 (10) : 719 - 722