PRENATAL-DIAGNOSIS OF PENA-SHOKEIR SYNDROME TYPE-1

被引:23
|
作者
MACMILLAN, RH
HARBERT, GM
DAVIS, WD
KELLY, TE
机构
[1] UNIV VIRGINIA,MED CTR,SCH MED,DEPT PATHOL,CHARLOTTESVILLE,VA 22901
[2] UNIV VIRGINIA,MED CTR,SCH MED,DEPT OBSTET & GYNECOL,CHARLOTTESVILLE,VA 22901
[3] UNIV VIRGINIA,MED CTR,SCH MED,DEPT PEDIAT,CHARLOTTESVILLE,VA 22901
[4] COMMUNITY HOSP ROANOKE VALLEY,DEPT OBSTET & GYNECOL,ROANOKE,VA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1985年 / 21卷 / 02期
关键词
D O I
10.1002/ajmg.1320210209
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:279 / 284
页数:6
相关论文
共 50 条
  • [21] THE PENA-SHOKEIR SYNDROME - REPORT OF 9 DUTCH CASES
    LINDHOUT, D
    HAGEMAN, G
    BEEMER, FA
    IPPEL, PF
    BRESLAUSIDERIUS, L
    WILLEMSE, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (04): : 655 - 668
  • [22] Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography
    Martins Santana, Eduardo Felix
    Oliveira Serni, Priscila Nogueira
    Rolo, Liliam Cristine
    Araujo Junior, Edward
    [J]. JOURNAL OF CLINICAL IMAGING SCIENCE, 2014, 4
  • [23] ULTRASOUND DIAGNOSIS OF THE PENA-SHOKEIR PHENOTYPE AT 14 WEEKS OF PREGNANCY
    AJAYI, RA
    KEEN, CE
    KNOTT, PD
    [J]. PRENATAL DIAGNOSIS, 1995, 15 (08) : 762 - 764
  • [24] Tonic-Clonic Seizures in a Fetus With Pena-Shokeir Syndrome
    Knudtson, Eric J.
    Lorenz, Landon B.
    Wilson, Patrick L.
    McDaniel, Brian
    Mulvihill, John J.
    Dannaway, Douglas C.
    [J]. JOURNAL OF ULTRASOUND IN MEDICINE, 2009, 28 (08) : 1121 - 1122
  • [25] Anesthetic management of three pediatric cases with Pena-Shokeir syndrome
    Tsujikawa, Shogo
    Okutani, Ryu
    Tsujii, Kenji
    Oda, Yutaka
    [J]. JOURNAL OF ANESTHESIA, 2012, 26 (03) : 445 - 448
  • [26] Pena-Shokeir type 1 syndrome with thymic and systemic lymphoid hyperplasia: Report of an autopsy case
    Itoh, H
    Chuganji, Y
    Kodama, Y
    Seguchi, T
    Kataoka, H
    Ikenoue, T
    Koono, M
    [J]. HUMAN PATHOLOGY, 2000, 31 (10) : 1321 - 1324
  • [27] Pena-Shokeir syndrome: current management strategies and palliative care
    Adam, Sumaiya
    Coetzee, Melantha
    Honey, Engela Magdalena
    [J]. APPLICATION OF CLINICAL GENETICS, 2018, 11 : 111 - 120
  • [28] 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
  • [29] Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family
    Carrascosa-Romero, M. C.
    Pardal-Fernandez, J. M.
    Sotoca-Fernandez, J.
    Onsurbe, I.
    Tebar-Gil, R.
    [J]. REVISTA DE NEUROLOGIA, 2007, 45 (04) : 229 - 232
  • [30] Anaesthesia and orphan disease: anaesthetic management of a child with Pena-Shokeir syndrome
    Bakan, Mefkur
    Idin, Kadir
    Karaaslan, Kazim
    Ozturk, Erdogan
    [J]. EUROPEAN JOURNAL OF ANAESTHESIOLOGY, 2012, 29 (12) : 595 - 596