title: Haddad syndrome.
abstract: Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.
authors.affiliation: Long-Term Home Care Services for Mechanically Ventilated Children, Polanki Children's Hospital in Gdańsk, Poland. m.lawicka@wp.pl
authors.forename: Marzena
authors.initials: M
authors.lastname: Ławicka
authors.forename: Joanna
authors.initials: J
authors.lastname: Sawicka
authors.forename: Grażyna
authors.initials: G
authors.lastname: Bąkowska
mesh_terms: D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D009154:Mutation; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors