title: Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
abstract: This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels.
authors.affiliation: College of Medicine, Ohio State University, Columbus, OH, USA. Lai.132@osu.edu
authors.forename: Daniel
authors.initials: D
authors.lastname: Lai
authors.forename: Brian
authors.initials: B
authors.lastname: Schroer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001049:Apnea / Q000150:complications / Q000235:genetics* / Q000628:therapy; D042622:DNA Repeat Expansion; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007420:Intestine, Large / Q000002:abnormalities / Q000473:pathology; D008297:Male; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors