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An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease

Bibliographic reference de Montpellier d'Annevoie, Sybille ; Sznajer, Yves ; Amiel, Jeanne ; François, Geneviève ; Nassogne, Marie-Cécile ; et. al. An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease. In: European journal of pediatrics, Vol. 173, no. 12, p. 1607-1609 (2014)
Permanent URL http://hdl.handle.net/2078.1/143040
  1. Amiel Jeanne, Laudier Béatrice, Attié-Bitach Tania, Trang Ha, de Pontual Loïc, Gener Blanca, Trochet Delphine, Etchevers Heather, Ray Pierre, Simonneau Michel, Vekemans Michel, Munnich Arnold, Gaultier Claude, Lyonnet Stanislas, Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome, 10.1038/ng1130
  2. Berry-Kravis Elizabeth M., Zhou Lili, Rand Casey M., Weese-Mayer Debra E., Congenital Central Hypoventilation Syndrome : PHOX2BMutations and Phenotype, 10.1164/rccm.200602-305oc
  3. HADDAD GABRIEL G., MAZZA NORMAN M., DEFENDINI RICHARD, BLANC WILLIAM A., DRISCOLL JOHN M., EPSTEIN MARY ANNE F., EPSTEIN RALPH A., MELLINS ROBERT B., CONGENITAL FAILURE OF AUTOMATIC CONTROL OF VENTILATION, GASTROINTESTINAL MOTILITY AND HEART RATE : , 10.1097/00005792-197811000-00003
  4. Majumdar S., Wood P., Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): An unusual cause of reduced baseline variability of the fetal heart rate, 10.1080/01443610802617752
  5. Matera I, PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome, 10.1136/jmg.2003.015412
  6. SAGEL S, Neonatal Hirschsprung disease, dysautonomia, and central hypoventilation, 10.1016/s0029-7844(98)00474-8
  7. Trang Ha, Boureghda Souham, Denjoy Isabelle, Alia Mohamed, Kabaker Michel, 24-Hour BP in Children With Congenital Central Hypoventilation Syndrome, 10.1378/chest.124.4.1393
  8. Trochet Delphine, de Pontual Loïc, Straus Christian, Gozal David, Trang Ha, Landrieu Pierre, Munnich Arnold, Lyonnet Stanislas, Gaultier Claude, Amiel Jeanne, PHOX2BGermline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome, 10.1164/rccm.200707-1079oc
  9. Weese-Mayer Debra E., Silvestri Jean M., Menzies Lisa J., Morrow-Kenny Anna S., Hunt Carl E., Hauptman Susan A., Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children, 10.1016/s0022-3476(05)80901-1
  10. Weese-Mayer Debra E., Berry-Kravis Elizabeth M., Ceccherini Isabella, Keens Thomas G., Loghmanee Darius A., Trang Ha, An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome : Genetic Basis, Diagnosis, and Management, 10.1164/rccm.200807-1069st