{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:39:06Z","timestamp":1792733946959,"version":"4.5.0"},"reference-count":14,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,6,1]]},"abstract":"<jats:p>Congenital central hypoventilation syndrome with Hirschsprung\u2019s disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and\/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene in a significant number of patients with this disorder. Diagnosis and management of this disorder in the setting of extreme prematurity is difficult as the manifestations of failure to maintain breathing effort and failure to establish feeds overlap with the complications of prematurity. We describe an infant who had congenital central hypoventilation syndrome with Hirschsprung\u2019s disease and was delivered at 26 weeks\u2019 gestational age and had total aganglionosis of the bowel, failure to wean from ventilation, and a mutation in the PHOX2B gene.<\/jats:p>","DOI":"10.1542\/peds.2004-1910","type":"journal-article","created":{"date-parts":[[2005,6,1]],"date-time":"2005-06-01T17:19:46Z","timestamp":1117646386000},"page":"e737-e738","source":"Crossref","is-referenced-by-count":25,"title":["Congenital Central Hypoventilation Syndrome and Hirschsprung\u2019s Disease in an Extremely Preterm Infant"],"prefix":"10.1542","volume":"115","author":[{"given":"Ramesh","family":"Bajaj","sequence":"first","affiliation":[{"name":"Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Smith","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, Westmead, New South Wales, Australia"},{"name":"Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Trochet","sequence":"additional","affiliation":[{"name":"Unite de Recherches sur les Handicaps Genetiques de l\u2019Enfant Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-393, et Departement de Genetique, Hopital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Pitkin","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Ouvrier","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Graf","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sillence","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, Westmead, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kluckow","sequence":"additional","affiliation":[{"name":"Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2005,6,1]]},"reference":[{"key":"2021120819224389800_R1","doi-asserted-by":"crossref","unstructured":"Bolande RP. 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