title: Haddad syndrome with PHOX2B gene mutation in a Korean infant.
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.
authors.affiliation: Institute for Medical Genetics, Keimyung University College of Medicine, Daegu, Korea.
authors.forename: Chung-Won
authors.initials: CW
authors.lastname: Lee
authors.forename: Jae-Ho
authors.initials: JH
authors.lastname: Lee
authors.forename: Eun-Young
authors.initials: EY
authors.lastname: Jung
authors.forename: Soon-Ok
authors.initials: SO
authors.lastname: Choi
authors.forename: Chun-Soo
authors.initials: CS
authors.lastname: Kim
authors.forename: Sang-Lak
authors.initials: SL
authors.lastname: Lee
authors.forename: Dae-Kwang
authors.initials: DK
authors.lastname: Kim
mesh_terms: D044466:Asian People; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors