FETAL AKINESIA AND MULTIPLE PERINATAL FRACTURES

被引:20
作者
CHEN, H [1 ]
BLACKBURN, WR [1 ]
WERTELECKI, W [1 ]
机构
[1] UNIV SO ALABAMA,DEPT PATHOL,MOBILE,AL 36688
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 04期
关键词
FETAL HYPOKINESIA; AKINESIA DEFORMATION SEQUENCE; PENA-SHOKEIR PHENOTYPE; THIN RIBS AND LONG BONES; MULTIPLE PERINATAL METAPHYSEAL AND DIAPHYSEAL FRACTURES; OSTEOPENIA; DIAPHYSEAL THINNING; THIN MARROW SPICULES; CALLUS; CONGENITAL NEUROLOGIC DISORDER; PATHOGENIC MECHANISM;
D O I
10.1002/ajmg.1320550416
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Two newborn infants with fetal akinesia sequence were noted to have multiple perinatal fractures of the long bones. The radiographic manifestations are characterized by gracile ribs, thin long bones, and multiple diaphyseal fractures. Consistent histopathologic changes of bone are irregular with focal areas of extreme diaphyseal thinning, thin and long marrow spicules, and with or without callous formation at fracture sites. Pathogenic mechanisms of bone fractures in fetal akinesia sequence and the differential diagnoses of congenital/perinatal bone fractures are discussed. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:472 / 477
页数:6
相关论文
共 27 条
  • [1] BASTIN TR, 1979, ALA J MED SCI, V16, P34
  • [2] MYOTONIC DYSTROPHY IN NEONATE
    BELL, DB
    SMITH, DW
    [J]. JOURNAL OF PEDIATRICS, 1972, 81 (01) : 83 - +
  • [3] BLACKBURN WR, 1978, CLIN RES, V26, pA86
  • [4] BIRTH FRACTURES IN SPINAL MUSCULAR-ATROPHY
    BURKE, SW
    JAMESON, VP
    ROBERTS, JM
    JOHNSTON, CE
    WILLIS, J
    [J]. JOURNAL OF PEDIATRIC ORTHOPAEDICS, 1986, 6 (01) : 34 - 36
  • [5] MYOTONIC-DYSTROPHY (STEINERT DISEASE) IN NEONATE
    CHASSEVENT, J
    SAUVEGRAIN, J
    BESSONLEAUD, M
    KALIFA, G
    [J]. RADIOLOGY, 1978, 127 (03) : 747 - 749
  • [6] THE PENA-SHOKEIR SYNDROME - REPORT OF 5 CASES AND FURTHER DELINEATION OF THE SYNDROME
    CHEN, H
    BLUMBERG, B
    IMMKEN, L
    LACHMAN, R
    RIGHTMIRE, D
    FOWLER, M
    BACHMAN, R
    BEEMER, FA
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (02): : 213 - 224
  • [7] DRACHMAN DB, 1962, LANCET, V2, P523
  • [8] FRIED K, 1975, CLIN GENET, V7, P417
  • [9] ANALYSIS OF PENA SHOKEIR PHENOTYPE
    HALL, JG
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01): : 99 - 117
  • [10] A LETHAL AUTOSOMAL RECESSIVE SYNDROME OF MULTIPLE CONGENITAL CONTRACTURES
    HERVA, R
    LEISTI, J
    KIRKINEN, P
    SEPPANEN, U
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (03): : 431 - 439