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Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant

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Affiliated Author(s)
김대광이재호정은영최순옥김천수이상락
Alternative Author(s)
Kim, Dae KwangLee, Jae HoJung, Eun YoungChoi, Soon OkKim, Chun SooLee, Sang Lak
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934
Issued Date
2011
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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