title: Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.
abstract: Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.
authors.forename: P
authors.initials: P
authors.lastname: Jaiyeola
authors.forename: D
authors.initials: D
authors.lastname: El-Metwally
authors.forename: R
authors.initials: R
authors.lastname: Viscardi
authors.forename: C
authors.initials: C
authors.lastname: Greene
authors.forename: H
authors.initials: H
authors.lastname: Woo
mesh_terms: D002245:Carbon Dioxide / Q000097:blood; D005817:Genetic Counseling; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008991:Monitoring, Physiologic; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D002245:Carbon Dioxide
keywords: Haddad syndrome; Hirschsprung’s disease; congenital hypoventilation syndrome