메뉴 건너뛰기




Volumn 134 A, Issue 3, 2005, Pages 315-317

Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop-Wolfgang complex

Author keywords

Agenesis of tibia; Bifid femur; Cleft lip with cleft palate; Congenital heart disease; Gollop Wolfgang complex; Tracheoesophageal fistula

Indexed keywords

AGENESIS; ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CLEFT LIP PALATE; CONGENITAL HEART DISEASE; FEMALE; FEMUR; GOLLOP WOLFGANG COMPLEX; HUMAN; INFANT; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SYNDROME DELINEATION; TIBIA; TRACHEOESOPHAGEAL FISTULA;

EID: 16344382232     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30636     Document Type: Article
Times cited : (18)

References (16)
  • 1
    • 0019801682 scopus 로고
    • Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis and foot deformities
    • Burck U, Riebel T, Held KR, Stoeckenius M. 1981. Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis and foot deformities. Helv Paediat Acta 36:473-482.
    • (1981) Helv Paediat Acta , vol.36 , pp. 473-482
    • Burck, U.1    Riebel, T.2    Held, K.R.3    Stoeckenius, M.4
  • 3
    • 0017690788 scopus 로고
    • Severe lower limb malformation associated with other deformities and death in infancy in two brothers
    • Fried K, Goldberg MD, Mundel G, Reif R. 1977. Severe lower limb malformation associated with other deformities and death in infancy in two brothers. J Med Genet 14:352-354.
    • (1977) J Med Genet , vol.14 , pp. 352-354
    • Fried, K.1    Goldberg, M.D.2    Mundel, G.3    Reif, R.4
  • 4
    • 0019169270 scopus 로고
    • Brief clinical report: Familial occurrence of bifid femur and monodactylous ectrodactyly
    • Gollop TR, Lucchesi E, Martins RMM, Nione AS. 1980. Brief clinical report: Familial occurrence of bifid femur and monodactylous ectrodactyly. Am J Med Genet 7:319-322.
    • (1980) Am J Med Genet , vol.7 , pp. 319-322
    • Gollop, T.R.1    Lucchesi, E.2    Martins, R.M.M.3    Nione, A.S.4
  • 5
    • 0028807862 scopus 로고
    • Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: An autosomal recessive disorder
    • Holmes LB, Redline RW, Brown DL, Williams AJ, Collins T. 1995. Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: An autosomal recessive disorder. Am J Med Genet 32:896-900.
    • (1995) Am J Med Genet , vol.32 , pp. 896-900
    • Holmes, L.B.1    Redline, R.W.2    Brown, D.L.3    Williams, A.J.4    Collins, T.5
  • 7
    • 0024375395 scopus 로고
    • Aplasia of the tibia with bifurcation of the femur and ectrodactyly: Evidence for an autosomal recessive type
    • Kohn G, El Shawwa R, Grunebaum M. 1989. Aplasia of the tibia with bifurcation of the femur and ectrodactyly: Evidence for an autosomal recessive type. Am J Med Genet 33:172-175.
    • (1989) Am J Med Genet , vol.33 , pp. 172-175
    • Kohn, G.1    El Shawwa, R.2    Grunebaum, M.3
  • 8
    • 0021886180 scopus 로고
    • Aplasia of the tibia with split hand/split foot deformity. Report of six families with 35 cases and consideration about variability and penetrance
    • Majewski F, Kuster W, ter Haar B, Goecke T. 1985. Aplasia of the tibia with split hand/split foot deformity. Report of six families with 35 cases and consideration about variability and penetrance. Hum Genet 70:136-147.
    • (1985) Hum Genet , vol.70 , pp. 136-147
    • Majewski, F.1    Kuster, W.2    Ter Haar, B.3    Goecke, T.4
  • 9
    • 0017748331 scopus 로고
    • Diastasis of the tibiofibular mortise, hypoplasia of the tibia, and clubfoot in a neonate with cleft hand and cardiac anomalies
    • Matthews WE, Muburak SJ, Carroll NC. 1977. Diastasis of the tibiofibular mortise, hypoplasia of the tibia, and clubfoot in a neonate with cleft hand and cardiac anomalies. Clin Orthop 126:216-219.
    • (1977) Clin Orthop , vol.126 , pp. 216-219
    • Matthews, W.E.1    Muburak, S.J.2    Carroll, N.C.3
  • 10
    • 0028946827 scopus 로고
    • Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive Facio-Skeleto-Genital Syndrome
    • Mollica F, Mazzone D, Cimino G, Opitz JM. 1995. Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive Facio-Skeleto-Genital Syndrome. Am J Med Genet 56:168-172.
    • (1995) Am J Med Genet , vol.56 , pp. 168-172
    • Mollica, F.1    Mazzone, D.2    Cimino, G.3    Opitz, J.M.4
  • 11
    • 0023989545 scopus 로고
    • Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: A possibly new lethal syndrome
    • Pfeiffer RA, Stoss H, Voight HJ, Wundisch GF. 1988. Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: A possibly new lethal syndrome. Am J Med Genet 29:901-908.
    • (1988) Am J Med Genet , vol.29 , pp. 901-908
    • Pfeiffer, R.A.1    Stoss, H.2    Voight, H.J.3    Wundisch, G.F.4
  • 12
    • 0015148888 scopus 로고
    • Apparent congenital absence of the tibia with congenital cardiac disease
    • Pratt AD. 1971. Apparent congenital absence of the tibia with congenital cardiac disease. Am J Dis Child 122:452-454.
    • (1971) Am J Dis Child , vol.122 , pp. 452-454
    • Pratt, A.D.1
  • 13
    • 0033522796 scopus 로고    scopus 로고
    • Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities
    • Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein AJJT. 1999. Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. Am J Med Genet 84:361-364.
    • (1999) Am J Med Genet , vol.84 , pp. 361-364
    • Raas-Rothschild, A.1    Nir, A.2    Ergaz, Z.3    Bar Ziv, J.4    Rein, A.J.J.T.5
  • 14
    • 0029058966 scopus 로고
    • Femoral-facial syndrome-prenatal diagnosis - Autosomal dominant inheritance
    • Robinow M, Sonek J, Burrino L, Beghte A. 1995. Femoral-facial syndrome-prenatal diagnosis-autosomal dominant inheritance. Am J Med Genet 57:397-399.
    • (1995) Am J Med Genet , vol.57 , pp. 397-399
    • Robinow, M.1    Sonek, J.2    Burrino, L.3    Beghte, A.4
  • 15
    • 0030041807 scopus 로고    scopus 로고
    • Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: A report of a Bedouin baby
    • Sabry MA, Obenbargerova D, Al-Sawan R, Al Saleh Q, Farah S, Al-Awada SA, Farag TI. 1996. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: A report of a Bedouin baby. J Med Genet 33:165-167.
    • (1996) J Med Genet , vol.33 , pp. 165-167
    • Sabry, M.A.1    Obenbargerova, D.2    Al-Sawan, R.3    Al Saleh, Q.4    Farah, S.5    Al-Awada, S.A.6    Farag, T.I.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.