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Volumn 13, Issue 4, 2004, Pages 237-240

Catel-Manzke syndrome: A case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome?

Author keywords

Catel Manzke; Consanguineous; Delta phalanx; Palatodigital syndrome; Pierre Robin

Indexed keywords

ARTICLE; BONE MALFORMATION; BONE MARROW EXAMINATION; CASE REPORT; CATEL MANZKE SYNDROME; CHILD DEVELOPMENT; CHROMOSOME BREAKAGE; FEMALE; FOOT MALFORMATION; HAND MALFORMATION; HAND RADIOGRAPHY; HUMAN; KARYOTYPE 46,XX; PERCEPTION DEAFNESS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; INFANT; NEWBORN; PATHOPHYSIOLOGY; RADIOGRAPHY; SYNDROME;

EID: 16644362405     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200410000-00007     Document Type: Article
Times cited : (11)

References (21)
  • 2
    • 0021166594 scopus 로고
    • Pierre Robin sequence and hyperphalangy, a genetic entity (Cafel Manzke syndrome)
    • Brude E (1984). Pierre Robin sequence and hyperphalangy, a genetic entity (Cafel Manzke syndrome). Eur J Pediatr 142:222-223.
    • (1984) Eur J Pediatr , vol.142 , pp. 222-223
    • Brude, E.1
  • 3
    • 0022610196 scopus 로고
    • Pierre Robin anomaly with an accessory metacarpal of the index finger: The Catel-Manzke Syndrome
    • Dignan PSJ, Martin LW, Zenni EJ (1986). Pierre Robin anomaly with an accessory metacarpal of the index finger: the Catel-Manzke Syndrome. Clin Genet 29:168-173.
    • (1986) Clin Genet , vol.29 , pp. 168-173
    • Dignan, P.S.J.1    Martin, L.W.2    Zenni, E.J.3
  • 4
    • 0028958730 scopus 로고
    • Choledochal cyst associated with rare hand malformation
    • Dudin A, Abdelshafi M, Rambaud-Cousson A (1995). Choledochal cyst associated with rare hand malformation. Am J Med Genet 56:161-163.
    • (1995) Am J Med Genet , vol.56 , pp. 161-163
    • Dudin, A.1    Abdelshafi, M.2    Rambaud-Cousson, A.3
  • 5
    • 0015132774 scopus 로고
    • Glossoptotic hypoxia and micrognathia-the Pierre Robin syndrome reviewed
    • Farnsworth PB, Pacik PT (1971). Glossoptotic hypoxia and micrognathia-the Pierre Robin syndrome reviewed. Clin Pediatr 10:600-606.
    • (1971) Clin Pediatr , vol.10 , pp. 600-606
    • Farnsworth, P.B.1    Pacik, P.T.2
  • 6
    • 0017893069 scopus 로고
    • Cleft palate and accessory metacarpal of index finger syndrome: Possible familial occurrence
    • Gewitz M, Dinwiddie R, Yuille T, Hill E, Carter CO (1978). Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. J Med Genet 15:162-164.
    • (1978) J Med Genet , vol.15 , pp. 162-164
    • Gewitz, M.1    Dinwiddie, R.2    Yuille, T.3    Hill, E.4    Carter, C.O.5
  • 9
    • 0015313768 scopus 로고
    • The Pierre Robin unusual associated developmental defects
    • Holthusen W (1972). The Pierre Robin unusual associated developmental defects. Ann Radiol (Paris) 15:253-262.
    • (1972) Ann Radiol (Paris) , vol.15 , pp. 253-262
    • Holthusen, W.1
  • 11
    • 0021086346 scopus 로고
    • Symmetric hyperphalangism of the index finger in the Palatodigital syndrome: A case report
    • Klug MS, Ketchum LD, Lipsey JH (1983). Symmetric hyperphalangism of the index finger in the Palatodigital syndrome: a case report. J Hand Surg 8:599-603.
    • (1983) J Hand Surg , vol.8 , pp. 599-603
    • Klug, M.S.1    Ketchum, L.D.2    Lipsey, J.H.3
  • 13
    • 0013951676 scopus 로고
    • Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale
    • Manzke VH (1966). Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale. Fortschr Geb Rontgenstr Nuklearmed 105:425-427.
    • (1966) Fortschr Geb Rontgenstr Nuklearmed , vol.105 , pp. 425-427
    • Manzke, V.H.1
  • 14
    • 0027939204 scopus 로고
    • Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect
    • Petit P, Moerman P, Legius E, Fryns JP (1994). Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. Genet Couns 5:381-385.
    • (1994) Genet Couns , vol.5 , pp. 381-385
    • Petit, P.1    Moerman, P.2    Legius, E.3    Fryns, J.P.4
  • 15
    • 0344522713 scopus 로고    scopus 로고
    • OPD-spectrum Disorders Clinical Collaborative Group: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    • Robertson SP, Twigg SRF, Sutherland-Smith A, Biancalana V, Gorlin RJ, Horn D et al. (2003). OPD-spectrum Disorders Clinical Collaborative Group: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491.
    • (2003) Nat Genet , vol.33 , pp. 487-491
    • Robertson, S.P.1    Twigg, S.R.F.2    Sutherland-Smith, A.3    Biancalana, V.4    Gorlin, R.J.5    Horn, D.6
  • 16
    • 0017697991 scopus 로고
    • Pierre Robin syndrome with hyperphalangism-clinodactylism of the index finger: A possible new Palato-Digital syndrome
    • Silengo MC, Franceschini P, Cerutti A, Fabris C (1977). Pierre Robin syndrome with hyperphalangism-clinodactylism of the index finger: a possible new Palato-Digital syndrome. Pediatr Radiol 6:178-180.
    • (1977) Pediatr Radiol , vol.6 , pp. 178-180
    • Silengo, M.C.1    Franceschini, P.2    Cerutti, A.3    Fabris, C.4
  • 18
    • 0018955726 scopus 로고
    • A digitopalatal syndrome with associated anomalies of the heart, face and skeleton
    • Stevenson RE, Taylor HA, Burton OM, Hearn HBIII (1980). A digitopalatal syndrome with associated anomalies of the heart, face and skeleton. J Med Genet 17:238-242.
    • (1980) J Med Genet , vol.17 , pp. 238-242
    • Stevenson, R.E.1    Taylor, H.A.2    Burton, O.M.3    Hearn III, H.B.4
  • 19
    • 0019947740 scopus 로고
    • Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature
    • Sundaram V, Taysi K, Hartmann AF Jr, Shackelford GD, Keating JP (1982). Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. Clin Genet 21:407-410.
    • (1982) Clin Genet , vol.21 , pp. 407-410
    • Sundaram, V.1    Taysi, K.2    Hartmann Jr., A.F.3    Shackelford, G.D.4    Keating, J.P.5
  • 20
    • 0022899566 scopus 로고
    • A male infant with the Catel-Manzke syndrome and dislocatable knees
    • Thompson EM, Winter RM, Williams MJH (1986). A male infant with the Catel-Manzke syndrome and dislocatable knees. J Med Genet 23:271-274.
    • (1986) J Med Genet , vol.23 , pp. 271-274
    • Thompson, E.M.1    Winter, R.M.2    Williams, M.J.H.3
  • 21
    • 0027417358 scopus 로고
    • Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?
    • Wilson GN, King TE, Brookshire GS (1993). Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? Am J Med Genet 46:176-179.
    • (1993) Am J Med Genet , vol.46 , pp. 176-179
    • Wilson, G.N.1    King, T.E.2    Brookshire, G.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.