Bloom Syndrome in Two Siblings

被引:7
|
作者
Sultan, Sheikh Javeed [1 ]
Sultan, Sheikh Tariq [2 ]
机构
[1] SKIMS Med Coll, Srinagar, Jammu & Kashmir, India
[2] Govt Med Coll, Srinagar, Jammu & Kashmir, India
关键词
CONGENITAL TELANGIECTATIC ERYTHEMA; SISTER CHROMATID EXCHANGES; GROWTH RETARDATION; MUTATION; BREAKAGE;
D O I
10.1111/j.1525-1470.2010.01101.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
引用
下载
收藏
页码:174 / 177
页数:4
相关论文
共 50 条
  • [41] Familial IPEX syndrome: Different glomerulopathy in two siblings
    Park, Eujin
    Chang, Hye Jin
    Shin, Jae Il
    Lim, Beom Jin
    Jeong, Hyeon Joo
    Lee, Kyoung Bun
    Moon, Kyoung Chul
    Kang, Hee Gyung
    Ha, Il-Soo
    Cheong, Hae Il
    PEDIATRICS INTERNATIONAL, 2015, 57 (02) : e59 - e61
  • [42] Touraine-Solente-Gole Syndrome in Two Siblings
    Iftikhar, Aisha
    Hamid, Muhammad Haroon
    Rathore, Ahsan Waheed
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2014, 24 : S247 - S249
  • [43] Two siblings with Allgrove's syndrome and extrapyramidal features
    Jacob, A
    Parameswaran, K
    Kishore, A
    NEUROLOGY INDIA, 2003, 51 (02) : 257 - 259
  • [44] Weismann-Netter-Stuhl syndrome in two siblings
    Ensar Yekeler
    Candan Ozdemir
    Selman Gokalp
    Abdurrahman Yildirim
    Firdevs Bas
    Hulya Gunoz
    Gulden Acunas
    Skeletal Radiology, 2005, 34 : 176 - 179
  • [45] Townes-Brocks syndrome with craniosynostosis in two siblings
    Lugli, Licia
    Rossi, Cecilia
    Ceccarelli, Pier Luca
    Calabrese, Olga
    Bedetti, Luca
    Miselli, Francesca
    Bianchini, Maria Anastasia
    Iughetti, Lorenzo
    Berardi, Alberto
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (12)
  • [46] Multisystem Inflammatory Syndrome Occurring Simultaneously in Two Siblings
    Kilic Cil, Merve
    Orgun, Ali
    Arslan, Ilknur
    Kisla Ekinci, Rabia Miray
    Tolunay, Orkun
    INDIAN JOURNAL OF PEDIATRICS, 2022, 89 (09): : 939 - 939
  • [47] Two siblings with action myoclonus renal failure syndrome
    Tabuas-Pereira, M.
    Duraes, J.
    Tomas, J.
    Gouveia, A.
    Miranda, C. S.
    Macario, M. C.
    MOVEMENT DISORDERS, 2016, 31 : S228 - S229
  • [48] Hyaline fibromatosis syndrome: case report of two siblings
    Rangel Rivera, Diego Alejandro
    Mendoza Rojas, Victor Clemente
    Uribe Perez, Claudia Janeth
    Adolfo Contreras-Garcia, Gustavo
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2015, 113 (05): : E264 - E267
  • [49] Ocular involvement in two siblings with Cohen's syndrome
    Pena Urbina, P.
    Garcia Caride, S.
    Sanchez, R. Gomez de Liano
    Domingo Gordo, B.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2021, 44 (07): : E437 - E440
  • [50] Weismann-Netter-Stuhl syndrome in two siblings
    Yekeler, E
    Ozdemir, C
    Gokalp, S
    Yildirim, A
    Bas, F
    Gunoz, H
    Acunas, G
    SKELETAL RADIOLOGY, 2005, 34 (03) : 176 - 179