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    Coexistent Hirschsprung's disease and esophageal achalasia in male siblings.

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    Authors
    Kelly, J L
    Mulcahy, T M
    O'Riordain, D S
    Buys, C H
    Hofstra, R M
    McCarthy, T
    Kirwan, W O
    Affiliation
    Department of Surgery, Cork University Hospital, Ireland.
    Issue Date
    2012-02-03T15:14:54Z
    MeSH
    Colectomy
    Esophageal Achalasia/*complications/*genetics/surgery
    Fundoplication
    Hirschsprung Disease/*complications/*genetics/surgery
    Humans
    Infant
    Male
    Proctocolectomy, Restorative
    
    Metadata
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    Citation
    J Pediatr Surg. 1997 Dec;32(12):1809-11.
    Journal
    Journal of pediatric surgery
    URI
    http://hdl.handle.net/10147/209200
    PubMed ID
    9434037
    Abstract
    Achalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.
    Language
    eng
    ISSN
    0022-3468 (Print)
    0022-3468 (Linking)
    Collections
    Cork University Hospital

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