메뉴 건너뛰기




Volumn 47, Issue 6, 2010, Pages 638-641

Intestinal malrotation in a patient with pfeiffer syndrome type 2

Author keywords

FGFR2; Intestinal malrotation; Pfeiffer syndrome

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; FEEDING DISORDER; HALLUX; HUMAN; INTESTINE MALROTATION; MALE; PRIORITY JOURNAL; RARE DISEASE; THUMB MALFORMATION; TOE MALFORMATION; VOMITING;

EID: 78549260100     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/09-115     Document Type: Article
Times cited : (3)

References (16)
  • 1
    • 0027403248 scopus 로고
    • Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3
    • Barone CM, Marion R, Shanske A, Argamaso RV, Shprintzen RJ. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet. 1993;45:745-750.
    • (1993) Am J Med Genet , vol.45 , pp. 745-750
    • Barone, C.M.1    Marion, R.2    Shanske, A.3    Argamaso, R.V.4    Shprintzen, R.J.5
  • 2
    • 68249160781 scopus 로고    scopus 로고
    • Antenatal diagnosis of intestinal malrotation on fetal MRI
    • Biyyam DR, Dighe M, Siebert JR. Antenatal diagnosis of intestinal malrotation on fetal MRI. Pediatr Radiol. 2009;39:847-849.
    • (2009) Pediatr Radiol , vol.39 , pp. 847-849
    • Biyyam, D.R.1    Dighe, M.2    Siebert, J.R.3
  • 3
    • 33645751198 scopus 로고    scopus 로고
    • Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation
    • Cassart M, Massez A, Lingier P, Absil AS, Donner C, Avni F. Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation. Pediatr Radiol. 2006;36:358-360.
    • (2006) Pediatr Radiol , vol.36 , pp. 358-360
    • Cassart, M.1    Massez, A.2    Lingier, P.3    Absil, A.S.4    Donner, C.5    Avni, F.6
  • 4
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 1993;45:300-307.
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen Jr., M.M.1
  • 5
    • 0027394497 scopus 로고
    • Visceral anomalies in the Apert syndrome
    • Cohen MM Jr, Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet. 1993;45:758-760.
    • (1993) Am J Med Genet , vol.45 , pp. 758-760
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 7
    • 0016641241 scopus 로고
    • Studies of malformation syndromes in man XXXVI: The Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review
    • Hodach RJ, Viseskul C, Gilbert EF, Herrmann JP, Wolfson JJ, Kaveggia EG, Opitz JM. Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review. Z Kinderheilkd. 1975;119:87-103.
    • (1975) Z Kinderheilkd , vol.119 , pp. 87-103
    • Hodach, R.J.1    Viseskul, C.2    Gilbert, E.F.3    Herrmann, J.P.4    Wolfson, J.J.5    Kaveggia, E.G.6    Opitz, J.M.7
  • 10
    • 33749042120 scopus 로고    scopus 로고
    • Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
    • Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol. 2006;76:629-633.
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 629-633
    • Oliveira, N.A.1    Alonso, L.G.2    Fanganiello, R.D.3    Passos-Bueno, M.R.4
  • 14
    • 0030609942 scopus 로고    scopus 로고
    • Trp29Ocys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
    • DOI 10.1007/s004390050413
    • Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet. 1997;99:602-606. (Pubitemid 27192589)
    • (1997) Human Genetics , vol.99 , Issue.5 , pp. 602-606
    • Tartaglia, M.1    Valeri, S.2    Velardi, F.3    Di Rocco, C.4    Battaglia, P.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.