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J. Korean Med. Sci. · Feb 2011
Case ReportsHaddad syndrome with PHOX2B gene mutation in a Korean infant.
- Chung-Won Lee, Jae-Ho Lee, Eun-Young Jung, Soon-Ok Choi, Chun-Soo Kim, Sang-Lak Lee, and Dae-Kwang Kim.
- Institute for Medical Genetics, Keimyung University College of Medicine, Daegu, Korea.
- J. Korean Med. Sci. 2011 Feb 1; 26 (2): 312315312-5.
AbstractCongenital 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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