Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
- Affiliated Author(s)
- 김대광; 이재호; 정은영; 최순옥; 김천수; 이상락
- Alternative Author(s)
- Kim, Dae Kwang; Lee, Jae Ho; Jung, Eun Young; Choi, Soon Ok; Kim, Chun Soo; Lee, Sang Lak
- Journal Title
- Journal of Korean Medical Science
- ISSN
- 1011-8934
- Issued Date
- 2011
- Keyword
- Congenital Central Hypoventilation Syndrome; Hirschsprung Disease; Haddad Syndrome; PHOX2B 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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