메뉴 건너뛰기




Volumn 63, Issue 5, 2005, Pages 426-432

Ondine's syndrome: Diagnosis and management;Síndrome de Ondine: Diagnóstico y seguimiento

Author keywords

Children; Congenital central bypoventilation; Guideline; Ondine's syndrome

Indexed keywords

ASPHYXIA; ASSISTED VENTILATION; DIAGNOSTIC TEST; DIAPHRAGM MUSCLE; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; EPIDEMIOLOGICAL DATA; FOLLOW UP; HUMAN; HYPOVENTILATION; INCIDENCE; LONG TERM CARE; ONDINE SYNDROME; PATHOPHYSIOLOGY; PROGNOSIS; RESPIRATION CONTROL; REVIEW; TREATMENT INDICATION;

EID: 29844443141     PISSN: 16954033     EISSN: None     Source Type: Journal    
DOI: 10.1157/13080408     Document Type: Article
Times cited : (8)

References (26)
  • 1
    • 0031782331 scopus 로고    scopus 로고
    • Congenital Central Hypoventilation Syndrome: An update
    • Gozal D. Congenital Central Hypoventilation Syndrome: An Update. Pediatric Pulmonology. 1998;26:273-82.
    • (1998) Pediatric Pulmonology , vol.26 , pp. 273-282
    • Gozal, D.1
  • 2
    • 13844316846 scopus 로고    scopus 로고
    • The French Congenital Central Hypoventilation Syndrome Registry: General data, phenotype, and genotype
    • Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C, French CCHS Working Group. The French Congenital Central Hypoventilation Syndrome Registry: General data, phenotype, and genotype. Chest. 2005;127:72-9.
    • (2005) Chest , vol.127 , pp. 72-79
    • Trang, H.1    Dehan, M.2    Beaufils, F.3    Zaccaria, I.4    Amiel, J.5    Gaultier, C.6
  • 3
    • 0032802151 scopus 로고    scopus 로고
    • Idiopathic congenital central hypoventilation syndrome
    • American thoracic society. Idiopathic congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 1999;160:368-73.
    • (1999) Am J Respir Crit Care Med , vol.160 , pp. 368-373
  • 4
    • 16144368214 scopus 로고    scopus 로고
    • Germline mutations of the Ret ligand GDNF are not sufficient to cause Hirschsprung disease
    • Salomon R, Attlé T, Pelet A, Bidaud C, Eng C, Amiel J, et al. Germline mutations of the Ret ligand GDNF are not sufficient to cause Hirschsprung disease. Nature Genet. 1996;14:345-7.
    • (1996) Nature Genet , vol.14 , pp. 345-347
    • Salomon, R.1    Attlé, T.2    Pelet, A.3    Bidaud, C.4    Eng, C.5    Amiel, J.6
  • 5
    • 0030292383 scopus 로고    scopus 로고
    • Germline mutations in glial cellline-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    • Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Germline mutations in glial cellline-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genet. 1996;14:341-4.
    • (1996) Nature Genet , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.A.4    Chakravarti, A.5
  • 6
    • 0027312644 scopus 로고
    • Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome
    • Weese-Mayer DE, Silvestri JM, Marazita ML, Hoo JJ. Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. Am J Med Genet. 1993;47:360-7.
    • (1993) Am J Med Genet , vol.47 , pp. 360-367
    • Weese-Mayer, D.E.1    Silvestri, J.M.2    Marazita, M.L.3    Hoo, J.J.4
  • 9
    • 0031925226 scopus 로고    scopus 로고
    • Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome
    • Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics. 1998;101:924-6.
    • (1998) Pediatrics , vol.101 , pp. 924-926
    • Sakai, T.1    Wakizaka, A.2    Matsuda, H.3    Nirasawa, Y.4    Itoh, Y.5
  • 12
    • 0344033754 scopus 로고    scopus 로고
    • Idiopathic congenital central hypoventilation syndrome: Análisis of genes pertinent to early autosomic nervous system embryologic development and identification of mutation in PHOX2b
    • Weese Mayer DE, Berry-Kravis E, Zhou L, Maher BS, Silvestri JM, Curran ME, et al. Idiopathic congenital central hypoventilation syndrome: Análisis of genes pertinent to early autosomic nervous system embryologic development and identification of mutation in PHOX2b. Am J Med Gen. 2003;123:267-78.
    • (2003) Am J Med Gen , vol.123 , pp. 267-278
    • Weese Mayer, D.E.1    Berry-Kravis, E.2    Zhou, L.3    Maher, B.S.4    Silvestri, J.M.5    Curran, M.E.6
  • 13
    • 0037379890 scopus 로고    scopus 로고
    • Polyalanine expansion and frame-shift mutation of the paired-like homebox gene PHOX2b in congenital central hypoventilation syndrome
    • Amiel J, Laudier B, Attié-Bittach T, Trang H, De Puntual L, Gender B, et al. Polyalanine expansion and frame-shift mutation of the paired-like homebox gene PHOX2b in congenital central hypoventilation syndrome. Nat Genet. 2003;33:459-61.
    • (2003) Nat Genet , vol.33 , pp. 459-461
    • Amiel, J.1    Laudier, B.2    Attié-Bittach, T.3    Trang, H.4    De Puntual, L.5    Gender, B.6
  • 14
  • 15
    • 0031003302 scopus 로고    scopus 로고
    • Cardiorespiratory control during sleep in the congenital central hypoventilation syndrome
    • Gaultier C, Trang-Pham H, Praud JP, Gallego J. Cardiorespiratory control during sleep in the congenital central hypoventilation syndrome. Pediatr Pulmonol. 1997;23:140-2.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 140-142
    • Gaultier, C.1    Trang-Pham, H.2    Praud, J.P.3    Gallego, J.4
  • 16
    • 0031003302 scopus 로고    scopus 로고
    • Cardiovascular and respiratory control in congenital central hypoventilation syndrome
    • Harper RM, Schechtman VL, Marylin SW. Cardiovascular and respiratory control in congenital central hypoventilation syndrome. Pediatr Pulmonol. 1997;23:140-2.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 140-142
    • Harper, R.M.1    Schechtman, V.L.2    Marylin, S.W.3
  • 17
    • 0030966805 scopus 로고    scopus 로고
    • Ocular signs in children with congenital central hypoventilation syndrome
    • Goldberg DS, Ludwwig IH. Ocular signs in children with congenital central hypoventilation syndrome. Pediatr Pulmonol. 1997;23:150-1.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 150-151
    • Goldberg, D.S.1    Ludwwig, I.H.2
  • 18
    • 0030938218 scopus 로고    scopus 로고
    • Home Positive pressure ventilation in congenital central hypoventilation síndrome: More than twenty years of experience
    • Beckerman RC. Home Positive pressure ventilation in congenital central hypoventilation síndrome: More than twenty years of experience. Pediatr Pulmonol. 1997;23:154-5.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 154-155
    • Beckerman, R.C.1
  • 19
    • 0030951157 scopus 로고    scopus 로고
    • Negative extrathoracic pressure ventilation in infants and young children with central hypoventilation síndrome
    • Hartmann H, Samuels MP, Noyes JP, Southall DP. Negative extrathoracic pressure ventilation in infants and young children with central hypoventilation síndrome. Pediatr Pulmonol. 1997;23:155-7.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 155-157
    • Hartmann, H.1    Samuels, M.P.2    Noyes, J.P.3    Southall, D.P.4
  • 20
    • 0041874733 scopus 로고    scopus 로고
    • Early use of Nasal-BiPAP in two infants with Congenital Central Hypoventilation syndrome
    • Migliori C, Cavazza A, Motta M, Bottino R, Chirico G. Early use of Nasal-BiPAP in two infants with Congenital Central Hypoventilation syndrome. Acta Pediatr. 2003;92:823-6.
    • (2003) Acta Pediatr , vol.92 , pp. 823-826
    • Migliori, C.1    Cavazza, A.2    Motta, M.3    Bottino, R.4    Chirico, G.5
  • 21
    • 0030769368 scopus 로고    scopus 로고
    • Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome
    • Villa MP, Dotta A, Castello D, Piro S, Pagani J, Palamides S, et al. Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome. Pediatr Pulmonol. 1997;24:66-9.
    • (1997) Pediatr Pulmonol , vol.24 , pp. 66-69
    • Villa, M.P.1    Dotta, A.2    Castello, D.3    Piro, S.4    Pagani, J.5    Palamides, S.6
  • 22
    • 0032718472 scopus 로고    scopus 로고
    • Le syndrome d'hypoventilation alvéolaire centrale congénitale, dit "síndrome d'ondine": Malaldie orpheline, maladie d'espoir
    • Beaufils F, Trang-Pham H, Gaultier C. Le syndrome d'hypoventilation alvéolaire centrale congénitale, dit "síndrome d'Ondine": malaldie orpheline, maladie d'espoir. Arch Pédiatr. 1999;6:383-5.
    • (1999) Arch Pédiatr , vol.6 , pp. 383-385
    • Beaufils, F.1    Trang-Pham, H.2    Gaultier, C.3
  • 25
    • 0030909729 scopus 로고    scopus 로고
    • Diaphragm pacing by electrical stimulation of the phrenic nerve: 1996 Update
    • Weese-Mayer DE. Diaphragm pacing by electrical stimulation of the phrenic nerve: 1996 update. Pediatr Pulmonol. 1997;23:157-9.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 157-159
    • Weese-Mayer, D.E.1
  • 26
    • 0030990194 scopus 로고    scopus 로고
    • Long term outcome of children with congenital central hypoventilation syndrome
    • Silvestri JM. Long term outcome of children with congenital central hypoventilation syndrome. Pediatr Pulmonol. 1997;23:161-3.
    • (1997) Pediatr Pulmonol , vol.23 , pp. 161-163
    • Silvestri, J.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.