DE-BARSY-SYNDROME - 2 FURTHER CASES

被引:0
|
作者
FREUND, S
PALITZSCH, D
机构
关键词
INTRAUTERINE GROWTH RETARDATION; CUTIS LAXA; MENTAL RETARDATION; DE-BARSY-SYNDROME;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We describe 2 siblings with intrauterine growth retardation, progeroid aspect with laxity of skin, craniofacial abnormalities and mental retardation. The skin biopsy demonstrating the alteration of the elastic tissue verifies the diagnosis of a De-Barsy-syndrome.
引用
收藏
页码:588 / 591
页数:4
相关论文
共 50 条
  • [1] The de Barsy syndrome
    Arazi, M
    Kapicioglu, MIS
    Mutlu, M
    TURKISH JOURNAL OF PEDIATRICS, 2001, 43 (01) : 79 - 84
  • [2] The De Barsy syndrome
    Guerra, D
    Fornieri, C
    Bacchelli, B
    Lugli, L
    Torelli, P
    Balli, F
    Ferrari, P
    JOURNAL OF CUTANEOUS PATHOLOGY, 2004, 31 (09) : 616 - 624
  • [3] De Barsy syndrome: a review of the phenotype
    Kivuva, Emma C.
    Parker, Michael J.
    Cohenc, Marta C.
    Wagner, Bart E.
    Sobey, Glenda
    CLINICAL DYSMORPHOLOGY, 2008, 17 (02) : 99 - 107
  • [4] Anesthesia considerations for patients with de Barsy syndrome
    Aponte, Elisabeth P.
    Smith, Hugh M.
    Wanek, Bryan J.
    Rettke, Steven R.
    JOURNAL OF CLINICAL ANESTHESIA, 2010, 22 (07) : 499 - 504
  • [5] Novel CNS malformations in De Barsy syndrome A
    Abdelraouf, Hanem S.
    Alhashem, Amal M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 342 - 342
  • [6] Anaesthesia recommendations for De Barsy syndrome
    Smith, Hugh M.
    Warner, Lindsay
    ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2021, 62 : S100 - S105
  • [7] Clinical implications of de Barsy syndrome
    Warner, Lindsay L.
    Olsen, David A.
    Smith, Hugh M.
    PEDIATRIC ANESTHESIA, 2018, 28 (01) : 59 - 62
  • [8] Congenital corneal opacification in De Barsy syndrome
    Aldave, AJ
    Eagle, RC
    Streeten, BW
    Qi, J
    Raber, IM
    ARCHIVES OF OPHTHALMOLOGY, 2001, 119 (02) : 285 - 288
  • [9] De Barsy syndrome and ATP6V0A2-CDG
    Elisa Leao-Teles
    Dulce Quelhas
    Laura Vilarinho
    Jaak Jaeken
    European Journal of Human Genetics, 2010, 18 : 526 - 526
  • [10] A Case of de Barsy Syndrome With a Severe Eye Phenotype
    Al-Owain, Mohammed
    Alanazi, Shamsa
    Khalifa, Ola
    Al-Hemidan, Amal
    Al-Ebdi, Loai
    Al-Saud, Bandar
    Alkuraya, Fowzan S.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2364 - 2366