Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome

被引:4
|
作者
Lembet, A
Oktem, M
Yilmaz, Z
Kaya, U
Derbent, M
机构
[1] Baskent Univ, Sch Med, Dept Obstet & Gynecol, TR-06490 Ankara, Turkey
[2] Baskent Univ, Sch Med, Dept Med Biol & Genet, TR-06490 Ankara, Turkey
[3] Baskent Univ, Sch Med, Dept Pediat, TR-06490 Ankara, Turkey
关键词
multiple pterygium syndrome; Klinefelter syndrome; ultrasound; prenatal diagnosis;
D O I
10.1002/pd.672
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low-set ears, flexion contractures of upper and lower extremities and rocker-bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. After genetic counseling, the parents decided to have a therapeutic abortion. We presented this case for the purpose of further describing the early ultrasound findings and clinical features of multiple pterygium syndromes. Also, what makes our patient unique is the coincidental presence of Klinefelter syndrome with MPS. To our knowledge, this is the first case in the literature in which a 47,XXY karyotype has been found in a fetus with multiple pterygium syndrome. The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS. Copyright (C) 2003 John Wiley Sons, Ltd.
引用
收藏
页码:728 / 730
页数:3
相关论文
共 50 条
  • [31] TREATMENT OF MULTIPLE PTERYGIUM SYNDROME
    MCCALL, RE
    BUDDEN, J
    ORTHOPEDICS, 1992, 15 (12) : 1417 - 1422
  • [32] MULTIPLE PTERYGIUM SYNDROME - AN OVERVIEW
    RAMER, JC
    LADDA, RL
    DEMUTH, WW
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1988, 142 (07): : 794 - 798
  • [33] Parental decision following prenatal diagnosis of Klinefelter syndrome: A proposal for a correct approach
    Tarani, L.
    Mattiucci, C.
    Liberati, N.
    Mancini, F.
    Colloidi, F.
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2010, 54 : 890 - 890
  • [34] Prenatal diagnosis of double trisomy: Down and Klinefelter syndrome (48,XXY,+21)
    Vicic, A.
    Hafner, T.
    Stipoljev, F.
    CHROMOSOME RESEARCH, 2009, 17 : 214 - 215
  • [35] LETHAL MULTIPLE PTERYGIUM SYNDROME
    VANREGEMORTER, N
    WILKIN, P
    ENGLERT, Y
    ELKHAZEN, N
    ALEXANDER, S
    RODESCH, F
    MILAIRE, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (04): : 827 - 834
  • [36] Multiple pterygium syndrome in a neonate
    Thrasher, E. N.
    Lertwilaiwittaya, P.
    Philips, J. B.
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2025, 369 : S241 - S242
  • [37] Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita
    Manjunathan, Sujatha
    Singh, Kuldeep
    Saini, Lokesh
    NEUROLOGY, 2024, 103 (02) : e209602
  • [38] Prenatal phenotype of 47, XXY (Klinefelter syndrome)
    Swanson, Kate
    Bishop, Juliet C.
    Al-Kouatly, Huda B.
    Makhamreh, Mona
    Felton, Thomas
    Vora, Neeta L.
    Sparks, Teresa N.
    Jelin, Angie C.
    PRENATAL DIAGNOSIS, 2023, 43 (02) : 207 - 212
  • [39] PRENATAL EDEMA AND THE NOONAN PHENOTYPE IN KLINEFELTER SYNDROME
    HOYME, HE
    BYRNEESSIF, KE
    CLINICAL RESEARCH, 1990, 38 (01): : A187 - A187
  • [40] Prenatal phenotype of 47,XXY (Klinefelter syndrome)
    Swanson, Kate
    Bishop, Juliet C.
    Al Kouatly, Huda B.
    Makhamreh, Mona M.
    Felton, Thomas
    Vora, Neeta L.
    Sparks, Teresa N.
    Jelin, Angie C.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2021, 224 (02) : S591 - S591