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Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant

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Author(s)
Chung-Won LeeJae-Ho LeeEun-Young JungSoon-Ok ChoiChun-Soo KimSang-Lak LeeDae-Kwang Kim
Keimyung Author(s)
Kim, Dae KwangLee, Jae HoJung, Eun YoungChoi, Soon OkKim, Chun SooLee, Sang Lak
Department
Dept. of Medical Genetics (의학유전학)
Dept. of Anatomy (해부학)
Dept. of Surgery (외과학)
Dept. of Pediatrics (소아청소년학)
Institute for Cancer Research (암연구소)
Journal Title
Journal of Korean Medical Science
Issued Date
2011
Volume
26
Issue
2
Keyword
Congenital Central Hypoventilation SyndromeHirschsprung DiseaseHaddad SyndromePHOX2B gene
Abstract
Congenital central hypoventilation syndrome with Hirschsprung’s disease, also known as
Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies
described that congenital central hypoventilation syndrome had deep relation to the
mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male
infant with clinical manifestations of recurrent hypoventilation with hypercapnea and
bowel obstruction. These clinical manifestations were compatible with congenital central
hypoventilation syndrome and Hirschsprung’s disease, and polyalanine 26 repeats in the
PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described
a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were
discussed.
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