CHONDRODYSPLASIA PUNCTATA - ANOTHER POSSIBLE X-LINKED RECESSIVE CASE

被引:12
作者
BENNETT, CP
BERRY, AC
MAXWELL, DJ
SELLER, MJ [1 ]
机构
[1] GUYS HOSP,DIV MED & MOLEC GENET,7TH FLOOR,GUYS TOWER,LONDON SE1 9RT,ENGLAND
[2] GUYS HOSP,DIV OBSTET & GYNAECOL,LONDON SE1 9RT,ENGLAND
[3] GUYS HOSP,SE THAMES REG GENET CTR,LONDON SE1 9RT,ENGLAND
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期
关键词
CHONDRODYSPLASIA PUNCTATA; X-LINKED RECESSIVE; CALCIFIC STIPPLING;
D O I
10.1002/ajmg.1320440615
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 22-week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X-linked recessive brachytelephalangic chondrodysplasia punctata.
引用
收藏
页码:795 / 799
页数:5
相关论文
共 32 条
  • [21] RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - CLINICAL, PATHOLOGIC, AND BIOCHEMICAL FINDINGS IN 2 PATIENTS
    POULOS, A
    SHEFFIELD, L
    SHARP, P
    SHERWOOD, G
    JOHNSON, D
    BECKMAN, K
    FELLENBERG, AJ
    WRAITH, JE
    CHOW, CW
    USHER, S
    SINGH, H
    [J]. JOURNAL OF PEDIATRICS, 1988, 113 (04) : 685 - 690
  • [22] CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL (MT) TYPE
    RITTLER, M
    MENGER, H
    SPRANGER, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02): : 200 - 208
  • [23] ROSENFIELD RL, 1962, AM J MED SCI, V244, P763
  • [24] PEROXISOMAL DISORDERS - A NEWLY RECOGNIZED GROUP OF GENETIC-DISEASES
    SCHUTGENS, RBH
    HEYMANS, HSA
    WANDERS, RJA
    VANDERBOSCH, H
    TAGER, JM
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) : 430 - 440
  • [25] CHONDRODYSPLASIA PUNCTATA AND MATERNAL WARFARIN USE DURING PREGNANCY
    SHAUL, WL
    EMERY, H
    HALL, JG
    [J]. AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1975, 129 (03): : 360 - 362
  • [26] SHEFFIELD L J, 1989, American Journal of Human Genetics, V45, pA64
  • [27] CHONDRODYSPLASIA PUNCTATA - 23 CASES OF A MILD AND RELATIVELY COMMON VARIETY
    SHEFFIELD, LJ
    DANKS, DM
    MAYNE, V
    HUTCHINSON, LA
    [J]. JOURNAL OF PEDIATRICS, 1976, 89 (06) : 916 - 923
  • [28] HETEROGENEITY OF CHONDRODYSPLASIA PUNCTATA
    SPRANGER, JW
    BIDDER, U
    OPITZ, JM
    [J]. HUMANGENETIK, 1971, 11 (03): : 190 - &
  • [29] VALDMANI.A, 1967, ANN GENET-PARIS, V10, P55
  • [30] VANMALDERGEM L, 1991, HUM GENET, V87, P661