RADIOLOGICAL CASE OF THE MONTH - DOMINANT X-LINKED CHONDRODYSPLASIA PUNCTATA

被引:2
|
作者
KOZLOWSKI, K
BATES, EH
YOUNG, LW
WOOD, BP
机构
[1] RANDWICK MED CTR,DEPT RADIOL,SYDNEY,AUSTRALIA
[2] ROYAL ALEXANDRA HOSP CHILDREN,SYDNEY,AUSTRALIA
来源
关键词
D O I
10.1001/archpedi.1988.02150110111032
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1233 / 1234
页数:2
相关论文
共 50 条
  • [31] CONRADI-HUNERMANN-HAPPLE SYNDROME, X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA 2
    Walter, S.
    Wierenga, K.
    Collinge, J.
    Chaaban, H.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2018, 66 (02) : 506 - 506
  • [32] CANDIDATE GENES FOR MOUSE MODELS OF X-LINKED, DOMINANT CHONDRODYSPLASIA PUNCTATA, AND INCONTINENTIA PIGMENTI
    LEVIN, ML
    CHATTERJEE, A
    HERMAN, GE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1256 - 1256
  • [33] Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    Herman, GE
    Kelley, RI
    Pureza, V
    Smith, D
    Kopacz, K
    Pitt, J
    Sutphen, R
    Sheffield, LJ
    Metzenberg, AB
    GENETICS IN MEDICINE, 2002, 4 (06) : 434 - 438
  • [34] Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
    Woods, Emily
    Yates, Michael
    Kanani, Farah
    Balasubramanian, Meena
    CLINICAL DYSMORPHOLOGY, 2022, 31 (03) : 132 - 135
  • [35] REFINEMENT OF THE LOCUS FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA
    MUROYA, K
    OGATA, T
    RAPPOLD, G
    KLINK, A
    NAKAHORI, Y
    FUKUSHIMA, Y
    AIZU, K
    MATSUO, N
    HUMAN GENETICS, 1995, 95 (05) : 577 - 580
  • [36] LOCALIZATION OF X-LINKED CHONDRODYSPLASIA PUNCTATA TO DISTAL XP
    CURRY, CR
    LANMAN, J
    MAGENIS, RE
    BERGNER, A
    SHAPIRO, LJ
    GOODFELLOW, P
    CLINICAL RESEARCH, 1984, 32 (01): : A99 - A99
  • [37] A severely affected female infant with X-linked dominant chondrodysplasia punctata: A case report and a brief review of the literature
    Rakheja, Dinesh
    Read, Charles P.
    Hull, David
    Boriack, Richard L.
    Timmons, Charles F.
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2007, 10 (02) : 142 - 148
  • [38] Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
    Tysoe, Carolyn
    Law, Caroline J.
    Caswell, Richard
    Clayton, Peter
    Ellard, Sian
    PRENATAL DIAGNOSIS, 2008, 28 (05) : 384 - 388
  • [39] Usefulness of histopathologic examination of thick scales in the diagnosis of X-linked dominant chondrodysplasia punctata (Happle)
    Yanagihara, M
    Ueda, K
    Asano, N
    Ozawa, T
    Nakatani, A
    Hirose, M
    PEDIATRIC DERMATOLOGY, 1996, 13 (01) : 1 - 4
  • [40] X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME) WITH UNCOMMON SYMMETRICAL SHORTENING OF THE TUBULAR BONES
    GOBELLO, T
    MAZZANTI, C
    FILECCIA, P
    DIDONA, B
    PAPI, M
    ATZORI, F
    CAVALIERI, R
    DERMATOLOGY, 1995, 191 (04) : 323 - 327