Sudden death in a child with Carpenter Syndrome. Case report and literature review

被引:4
作者
Ramos, Jeanette M. [1 ]
Davis, Gregory J. [1 ,2 ]
Hunsaker, John C. I. I. I. [1 ,2 ]
Balko, M. Gregory [3 ]
机构
[1] Univ Kentucky, Coll Med, Dept Pathol & Lab Med, Lexington, KY 40536 USA
[2] Centralized Lab Facil, Off Associate Chief Med Examiner, Frankfort, KY 40601 USA
[3] Med Legal Consultants Inc, Forens Neuropathol, Ft Wright, KY 41011 USA
关键词
Forensic pathology; Carpenter syndrome; Acrocephalopolysyndactyly type II; Sudden natural death; Congenital heart disease; Medicolegal autopsy; NORMAL HUMAN HEARTS; AGE-RELATED-CHANGES; 1ST; 10; DECADES; CLINICAL SPECTRUM; SPECIMENS; SIBLINGS; GROWTH; LIFE; OLD;
D O I
10.1007/s12024-009-9128-2
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia. We present a case of unexpected death of a 7-year-old boy with Carpenter Syndrome complicated by twin and premature birth as well as repaired congenital heart disease.
引用
收藏
页码:313 / 317
页数:5
相关论文
共 50 条
  • [21] Alstrom syndrome (OMIM 203800): a case report and literature review
    Joy, Tisha
    Cao, Henian
    Black, Graeme
    Malik, Rayaz
    Charlton-Menys, Valentine
    Hegele, Robert A.
    Durrington, Paul N.
    ORPHANET JOURNAL OF RARE DISEASES, 2007, 2
  • [22] Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature
    Martelli-Junior, Hercilio
    dos Santos Neto, Pedro Eleuterio
    de Aquino, Sibele Nascimento
    de Oliveira Santos, Carolina Carvalho
    Borges, Sabina Pena
    Oliveira, Eduardo Araujo
    Lopes, Marcio Ajudarte
    Coletta, Ricardo D.
    NEPHRON PHYSIOLOGY, 2011, 118 (03): : P62 - P65
  • [23] Death Due to Adrenal Crisis Case Report and a Review of the Forensic Literature
    Gitto, Lorenzo
    Stoppacher, Robert
    Serinelli, Serenella
    AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY, 2021, 42 (04) : 392 - 396
  • [24] Wiedemann-Steiner Syndrome: Case Report and Review of Literature
    Yu, Huan
    Zhang, Guijiao
    Yu, Shengxu
    Wu, Wei
    CHILDREN-BASEL, 2022, 9 (10):
  • [25] Medical Therapy for Eisenmenger Syndrome: A Case Report and Review of Literature
    Pradhan, Akshyaya
    Vohra, Shweta
    Vishwakarma, Pravesh
    Sethi, Rishi
    INTERNATIONAL JOURNAL OF ANGIOLOGY, 2021, 30 (04) : 305 - 309
  • [26] Neonatal arrhythmias in Turner syndrome: a case report and review of the literature
    Choi, Yeyoon
    Hoffman, Jodi
    Alarcon, Lizzeth
    Pfau, Jennifer
    Bolourchi, Meena
    EUROPEAN HEART JOURNAL-CASE REPORTS, 2021, 5 (04)
  • [27] Unexpected and Sudden Death Due to Undiagnosed Moraxella catarrhalis Meningoencephalitis in a 40-day-old Infant Case Report and Literature Review
    Ventura, Francesco
    Barranco, Rosario
    Buffelli, Francesca
    Fulcheri, Ezio
    Bandettini, Roberto
    Palmieri, Antonella
    AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY, 2020, 41 (04) : 333 - 337
  • [28] Sudden death due to cerebral malaria: A case report
    Prat, S.
    Desoubeaux, G.
    Lefrancq, Th
    Chandenier, J.
    Saint-Martin, P.
    JOURNAL OF FORENSIC AND LEGAL MEDICINE, 2013, 20 (06) : 690 - 692
  • [29] Clear Cell Meningeoma of the Brainstem in a 3.5-year-old Child: Case Report and Review of the Literature
    Taha, H.
    Schirmer, M.
    CENTRAL EUROPEAN NEUROSURGERY, 2010, 71 (03): : 148 - 151
  • [30] Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review
    Shen, Zheng
    Zou, Chao Chun
    Shang, Shi Qiang
    Jiang, Ke Wen
    INTERNAL MEDICINE, 2012, 51 (11) : 1371 - 1374