Apert Syndrome: a Case Report

被引:0
|
作者
Canpolat, Mehmet [1 ]
Buyukayhan, Derya [1 ]
Gunes, Tamer [1 ]
Akcakus, Mustafa [1 ]
Ozturk, Adnan [1 ]
Kurtoglu, Selim [1 ]
机构
[1] Erciyes Univ, Dept Pediat, Med Fac, Kayseri, Turkey
关键词
Apert Syndrome; Child; Spinal Fusion;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, and mid-line hypoplasia. In this paper, we present a case with typical face appearance consisting of acrocephaly, high and prominent forehed, antimogoloid axis, hypertelorism, proptosis, mid-facial hypoplasia, symmetric syndactylia of hands and feet, many synostosis on both hands and cutaneous syndactylies, cerebellar hypoplasia, cervical vertebra fusion, and to discuss the clinical features of Apert syndrome.
引用
收藏
页码:53 / 61
页数:9
相关论文
共 50 条
  • [1] Apert Syndrome - A case report
    Sandhu, S. V.
    Narang, R. S.
    Padda, S. S.
    Grover, J. S.
    [J]. JOURNAL OF ORAL PATHOLOGY & MEDICINE, 2006, 35 (07) : 453 - 453
  • [2] A case report of Apert syndrome
    Cahyana, Nugraha Wahyu
    [J]. BALI MEDICAL JOURNAL, 2023, 12 (02) : 2046 - 2049
  • [3] Apert Syndrome: A Case Report
    Mafinejad, Shahin
    Ehteshammanesh, Hojat
    Bayani, Ghasem
    Mahmoodzade, Hosein
    [J]. IRANIAN JOURNAL OF NEONATOLOGY, 2022, 13 (01) : 71 - 73
  • [4] Apert syndrome: case report
    Karaman, Ali
    Kahveci, Hasan
    [J]. MEDICAL JOURNAL OF BAKIRKOY, 2013, 9 (02) : 81 - 84
  • [5] Apert's syndrome: a case report
    Doutetien, C
    Laleye, A
    Tchabi, S
    Biaou, O
    Lawani, R
    Deguenon, J
    Darboux, R
    Gnamey, D
    Bassabi, SK
    [J]. JOURNAL FRANCAIS D OPHTALMOLOGIE, 2003, 26 (07): : 738 - 742
  • [6] Apert Syndrome. Case Report
    Perez Brena, Ninecta
    Abad Aguiar, Francisco Amed
    Reyes Hernandez, Dunia
    Gonzalez Martinez, Yamil
    [J]. MEDISUR-REVISTA DE CIENCIAS MEDICAS DE CIENFUEGOS, 2010, 8 (04): : 292 - 294
  • [7] Apert Syndrome with Omphalocele: A Case Report
    Ercoli, Gabriel
    Paz Bidondo, Maria
    Cristina Senra, Blanca
    Groisman, Boris
    [J]. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2014, 100 (09) : 726 - 729
  • [8] Apert syndrome: A case report and review of the literature
    Koca, Tuba Tulay
    [J]. NORTHERN CLINICS OF ISTANBUL, 2016, 3 (02) : 135 - 139
  • [9] Acrocephalosyndactyly Type 1 (Apert Syndrome): A Case Report
    Chavda, Vruti
    Shah, Aishani
    Chaudhari, Dixit
    [J]. INDIAN DERMATOLOGY ONLINE JOURNAL, 2021, 12 (06) : 958 - 959
  • [10] Apert syndrome: A case report with discussion of craniofacial features
    Paravatty, RP
    Ahsan, A
    Sebastian, BT
    Pai, KM
    Dayal, PK
    [J]. QUINTESSENCE INTERNATIONAL, 1999, 30 (06): : 423 - 426