메뉴 건너뛰기




Volumn 78, Issue 2-3, 2001, Pages 83-90

Proximal Focal Femoral Deficiency, Contralateral Hip Dysplasia in Association with Contralateral Ulnar Hypoplasia and Clefthand: A Case Report and Review of Literatures of PFFD and/or FFU

Author keywords

Abnormalities extremities; Congenital deficiency of femur (CDF); Femoral hypoplasia; Femur fibula ulna complex (FFU); Proximal focal femoral deficiency (PPFD); Short femur

Indexed keywords

ADOLESCENT; CASE REPORT; CONGENITAL HIP DISLOCATION; CONGENITAL MALFORMATION; FEMUR; FIBULA; HAND MALFORMATION; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHOCOMELIA; REVIEW; SYNDROME; ULNA;

EID: 0035431955     PISSN: 0030154X     EISSN: None     Source Type: Journal    
DOI: 10.2535/ofaj1936.78.2-3_83     Document Type: Article
Times cited : (5)

References (47)
  • 1
    • 0003102070 scopus 로고
    • Proximal femoral focal deficiency-definition classification, and management
    • Aitken GT. ed. Washington D.C., National Academy of Sciences
    • Aitken GT. Proximal femoral focal deficiency-definition classification, and management. In: Aitken GT. ed. Proximal femoral focal deficiency: A congenital anomaly. Washington D.C., National Academy of Sciences 1969; 1-22.
    • (1969) Proximal Femoral Focal Deficiency: A Congenital Anomaly , pp. 1-22
    • Aitken, G.T.1
  • 2
    • 0029609703 scopus 로고
    • Proximal femoral focal deficiency. Result of Rotationplasty and Syme Amputation
    • Dec
    • Alman BA, Krajbich JI and Hubbard S. Proximal femoral focal deficiency. Result of Rotationplasty and Syme Amputation. J Bone Joint Surg 1995 Dec; Vol: 77A, No: 12:1876-1882.
    • (1995) J Bone Joint Surg , vol.77 A , Issue.12 , pp. 1876-1882
    • Alman, B.A.1    Krajbich, J.I.2    Hubbard, S.3
  • 3
    • 0002590286 scopus 로고
    • The morphology, natural history and treatment of proximal femoral focal deficiency
    • Aitken GT. ed. Washington D.C.; National Academy of Science
    • Amstutz HC. The morphology, natural history and treatment of proximal femoral focal deficiency, In: Aitken GT. ed. Proximal femoral focal deficiency. A congenital anomaly. Washington D.C.; National Academy of Science 1969; 50-76.
    • (1969) Proximal Femoral Focal Deficiency. A Congenital Anomaly , pp. 50-76
    • Amstutz, H.C.1
  • 4
    • 0021619938 scopus 로고
    • Syme amputation in children, indications, results and long term follow up
    • September
    • Anderson L, Westin GW and Oppenheim WL. Syme amputation in children, indications, results and long term follow up. J Pediatr Orthop 1984 September; 4(5):550-4.
    • (1984) J Pediatr Orthop , vol.4 , Issue.5 , pp. 550-554
    • Anderson, L.1    Westin, G.W.2    Oppenheim, W.L.3
  • 5
    • 0029826362 scopus 로고    scopus 로고
    • Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome
    • Nov
    • Bamshad M, Root S and Corey JS. Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. Am J Med Genet. 1996 Nov; 11, 65-4:325-31.
    • (1996) Am J Med Genet. , vol.11 , pp. 65-74
    • Bamshad, M.1    Root, S.2    Corey, J.S.3
  • 6
    • 0028098052 scopus 로고
    • Bilateral Femoral Hypoplasia Associated with Rokitansky Sequance: Another example of a mesodermal spectrum
    • Bau CHD, Riberio CA, Riberio SA and Flores RZ. Bilateral Femoral Hypoplasia Associated With Rokitansky Sequance: Another example of a mesodermal spectrum. Am J Med Genet 1994; 49:205-206.
    • (1994) Am J Med Genet , vol.49 , pp. 205-206
    • Bau, C.H.D.1    Riberio, C.A.2    Riberio, S.A.3    Flores, R.Z.4
  • 7
    • 0026100217 scopus 로고
    • Humoral shorthening in second trimester fetuses with Down Syndrome
    • Feb
    • Benacerraf BR, Neuberg D and Frigoletto FD (Jr). Humoral shorthening in second trimester fetuses with Down Syndrome. Obstet Gynecol 1991 Feb; 77(2):223-227.
    • (1991) Obstet Gynecol , vol.77 , Issue.2 , pp. 223-227
    • Benacerraf, B.R.1    Neuberg, D.2    Frigoletto F.D., Jr.3
  • 8
  • 9
    • 0029885475 scopus 로고    scopus 로고
    • Congenital ball and socket anomaly of the ankle
    • Jul-Aug
    • Bettin D, Karbowski A and Schwering L. Congenital ball and socket anomaly of the ankle. J Pediatr Orthop 1996 Jul-Aug; 16(4):492-496.
    • (1996) J Pediatr Orthop , vol.16 , Issue.4 , pp. 492-496
    • Bettin, D.1    Karbowski, A.2    Schwering, L.3
  • 10
    • 0028360979 scopus 로고
    • Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation
    • Jun
    • Capece G, Fasolino A, Della Monica M, Lonardo F, Scarano G and Neri G. Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation. Prenat Diagn 1994 Jun; 14(6):502-505.
    • (1994) Prenat Diagn , vol.14 , Issue.6 , pp. 502-505
    • Capece, G.1    Fasolino, A.2    Della Monica, M.3    Lonardo, F.4    Scarano, G.5    Neri, G.6
  • 11
    • 0022515249 scopus 로고
    • Monozygotic twins concordant for congenital short femur
    • Aug
    • Connor JM, Rae PS and Connor RA. Monozygotic twins concordant for congenital short femur. J Med Genet 1986 Aug; 23(4):363-364.
    • (1986) J Med Genet , vol.23 , Issue.4 , pp. 363-364
    • Connor, J.M.1    Rae, P.S.2    Connor, R.A.3
  • 12
    • 0027241318 scopus 로고
    • Causal study of isolated ulnar-fibular deficiency in Hungary, 1975-1984
    • Jun; 46
    • Czeizel AE, Vitez M, Kodaj I and Lenz W. Causal study of isolated ulnar-fibular deficiency in Hungary, 1975-1984. Am J Med Genet 1993 Jun; 1; 46(4):427-433.
    • (1993) Am J Med Genet , vol.1 , Issue.4 , pp. 427-433
    • Czeizel, A.E.1    Vitez, M.2    Kodaj, I.3    Lenz, W.4
  • 13
    • 0016232783 scopus 로고
    • The natural history and early treatment of proximal femoral dysplasia
    • (Br) Feb
    • Fixen JA and Lloyd-Roberts GC. The natural history and early treatment of proximal femoral dysplasia. J Bone Joint Surg (Br) 1974 Feb; 56:B, No: 1:86-95.
    • (1974) J Bone Joint Surg , vol.56 B , Issue.1 , pp. 86-95
    • Fixen, J.A.1    Lloyd-Roberts, G.C.2
  • 14
    • 0032873131 scopus 로고    scopus 로고
    • Prenatal Ultrasound Diagnosis of a Femur-Fibula-Ulna Complex during the First Half of Pregnancy
    • Oct
    • Florio I, Wisser J and Huch A. Prenatal Ultrasound Diagnosis of a Femur-Fibula-Ulna Complex during the First Half of Pregnancy. Fetal Diagn Ther 1999 Oct; 14(5):310-312.
    • (1999) Fetal Diagn Ther , vol.14 , Issue.5 , pp. 310-312
    • Florio, I.1    Wisser, J.2    Huch, A.3
  • 15
    • 0021029549 scopus 로고
    • Classification and management of Congenital Anomalies of the Femur
    • November
    • Gillespie R and Torode IP. Classification and management of Congenital Anomalies of the Femur. J Bone Joint Surg 1983 November; Vol: 65-B, No: 5:557-568.
    • (1983) J Bone Joint Surg , vol.65 B , Issue.5 , pp. 557-568
    • Gillespie, R.1    Torode, I.P.2
  • 17
    • 0017654944 scopus 로고
    • The WT syndrome a-"new" autosomal dominant pleitropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia
    • Gonzales CH, Durkin-Stamn MV, Geimer NF, et al. The WT syndrome a-"new" autosomal dominant pleitropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth Defects 1977; 13(3B):31-38.
    • (1977) Birth Defects , vol.13 , Issue.3 B , pp. 31-38
    • Gonzales, C.H.1    Durkin-Stamn, M.V.2    Geimer, N.F.3
  • 18
    • 0025774904 scopus 로고
    • Lengthening for congenital short femur. Result of Different Methods
    • (Br) May
    • Grill F and Dungl P. Lengthening for congenital short femur. Result of Different Methods. J Bone Joint Surg (Br) 1991 May; 73(3):439-447.
    • (1991) J Bone Joint Surg , vol.73 , Issue.3 , pp. 439-447
    • Grill, F.1    Dungl, P.2
  • 19
    • 0027955188 scopus 로고
    • Sonography in Congenital Deficiency of the Femur
    • Grissom LE and Harcke HT. Sonography in Congenital Deficiency of the Femur. J Pediatr Orthop 1994; 14:29-33.
    • (1994) J Pediatr Orthop , vol.14 , pp. 29-33
    • Grissom, L.E.1    Harcke, H.T.2
  • 20
    • 0018871925 scopus 로고
    • Congenital short femur: Clinical, genetic and epidemiological comparison of the naturally occuring condition with that caused by Thalidomide
    • (Br) August
    • Hamanishi C. Congenital short femur: clinical, genetic and epidemiological comparison of the naturally occuring condition with that caused by Thalidomide. J Bone Joint Surg (Br) 1980 August; 62-B, No: 3:307-320.
    • (1980) J Bone Joint Surg , vol.62 B , Issue.3 , pp. 307-320
    • Hamanishi, C.1
  • 21
    • 0028794036 scopus 로고
    • Mirror image duplication of the hands and feet: Report of a sporadic case with multiple congenital anomalies
    • Nov 59
    • Hersh JH, Dela Cruz TV, Pietrantoni M, et al. Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies. Am J Med Genet 1995 Nov 20; 59(3):341-345.
    • (1995) Am J Med Genet , vol.20 , Issue.3 , pp. 341-345
    • Hersh, J.H.1    Dela Cruz, T.V.2    Pietrantoni, M.3
  • 23
    • 0028068688 scopus 로고
    • Bilateral femoral hypoplasia and maternal diabetes mellitus
    • Hitti IF, Glasberg SS, Jones DH and Sabet R. Bilateral femoral hypoplasia and maternal diabetes mellitus. Pediatr Pathol 1994; 14:567-574.
    • (1994) Pediatr Pathol , vol.14 , pp. 567-574
    • Hitti, I.F.1    Glasberg, S.S.2    Jones, D.H.3    Sabet, R.4
  • 24
    • 0028355479 scopus 로고
    • Bone Graft Following Lenthening for Congenital Shorthening of the Lower Limb
    • Hope PG, Crawfurd EJP, Catteral A and Chir M. Bone Graft Following Lenthening for Congenital Shorthening of the Lower Limb. J Pediatr Orthop 1994; 14:339-342.
    • (1994) J Pediatr Orthop , vol.14 , pp. 339-342
    • Hope, P.G.1    Crawfurd, E.J.P.2    Catteral, A.3    Chir, M.4
  • 25
    • 0025204179 scopus 로고
    • Fibula Dimelia in Association with Ipsilateral Proximal Focal Femoral Deficiency and Polydactyly, a case report
    • Sep
    • Igous RA (Jr) and Kruger LM. Fibula Dimelia in Association With Ipsilateral Proximal Focal Femoral Deficiency and Polydactyly, A case report. Clin Orthop 1990 Sep; No: 258:237-241.
    • (1990) Clin Orthop , vol.258 , pp. 237-241
    • Igous R.A., Jr.1    Kruger, L.M.2
  • 26
    • 0028143793 scopus 로고
    • The influence of ultrasound scanner beam with on femur length measurements
    • Jago JR, Whittingam TA and Heslop R. The influence of ultrasound scanner beam with on femur length measurements. Ultrasound in Med and Biol 1994; Vol: 20, No: 8:669-703.
    • (1994) Ultrasound in Med and Biol , vol.20 , Issue.8 , pp. 669-703
    • Jago, J.R.1    Whittingam, T.A.2    Heslop, R.3
  • 27
    • 0018774385 scopus 로고
    • Fibular transfer for congenital absence of the tibia
    • Mar-Apr
    • Jayakumar SS and Eilert RE. Fibular transfer for congenital absence of the tibia Clin Ortop 1979 Mar-Apr; 139:97-101.
    • (1979) Clin Ortop , vol.139 , pp. 97-101
    • Jayakumar, S.S.1    Eilert, R.E.2
  • 28
    • 0020524642 scopus 로고
    • Missing cruciate ligament in congenital short femur
    • Oct
    • Johanson E and Aparisi T. Missing cruciate ligament in congenital short femur. J Bone Joint Surg Am 1983 Oct; Volume 65(8):1109-15.
    • (1983) J Bone Joint Surg Am , vol.65 , Issue.8 , pp. 1109-1115
    • Johanson, E.1    Aparisi, T.2
  • 29
    • 0020511169 scopus 로고
    • Femoral hypoplasia unusual faces syndrome in infants of diabetic mother
    • Johnson JP, Carey JS, Gooch 3WM 3d, Petersen J and Beattie JF. Femoral hypoplasia unusual faces syndrome in infants of diabetic mother. J Pediatr 1983; 102(6):866-872.
    • (1983) J Pediatr , vol.102 , Issue.6 , pp. 866-872
    • Johnson, J.P.1    Carey, J.S.2    Gooch W.M. III3    Petersen, J.4    Beattie, J.F.5
  • 30
    • 0021952270 scopus 로고
    • Congenital deficiency of the femur
    • Mar-Apr
    • Kalamchi A, Cowell HR and Kim KI. Congenital deficiency of the femur. J Pediatr Orthop 1985 Mar-Apr; 5(2):129-34.
    • (1985) J Pediatr Orthop , vol.5 , Issue.2 , pp. 129-134
    • Kalamchi, A.1    Cowell, H.R.2    Kim, K.I.3
  • 31
    • 0022946277 scopus 로고
    • Two sporadic cases of amelia/phocomeelia with similar phenotype: Rare and unusually symmetrical form of FFU dysostosis or separate entity
    • Kardon NB, Dana LP, Fitz Gerald JM and Opitz JM. Two sporadic cases of amelia/phocomeelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity. Am J Genet Suppl 1986; 2:239-245.
    • (1986) Am J Genet Suppl , vol.2 , pp. 239-245
    • Kardon, N.B.1    Dana, L.P.2    Fitz Gerald, J.M.3    Opitz, J.M.4
  • 32
    • 0042778869 scopus 로고
    • Pediatric Update; Familial congenital short femur, intrauterine detection and follow up by ultrasound, a case report
    • Mar-Apr
    • Keret D and Timor IE. Pediatric Update; Familial congenital short femur, intrauterine detection and follow up by ultrasound, a case report. Orthop 1993 Mar-Apr; 13(2):203-209.
    • (1993) Orthop , vol.13 , Issue.2 , pp. 203-209
    • Keret, D.1    Timor, I.E.2
  • 33
    • 0016777897 scopus 로고
    • Van Nes Rotational Osteotomy for Treatment of Proximal Femoral Focal Deficiency and Congenital Short Femur
    • December
    • Kostuik JP, Gillespie R, Hall JE and Hubbard S. Van Nes Rotational Osteotomy for Treatment of Proximal Femoral Focal Deficiency and Congenital Short Femur. J Bone Joint Surg 1975 December; Vol: 57-A, No: 8:1039-1046.
    • (1975) J Bone Joint Surg , vol.57 A , Issue.8 , pp. 1039-1046
    • Kostuik, J.P.1    Gillespie, R.2    Hall, J.E.3    Hubbard, S.4
  • 34
    • 0027536542 scopus 로고
    • Fibular dimelia with deficiency of the tibia
    • Mar-Apr
    • Kumar A and Kruger LM. Fibular dimelia with deficiency of the tibia. J Pedatr Orthop 1993 Mar-Apr; 13(2):203-209.
    • (1993) J Pedatr Orthop , vol.13 , Issue.2 , pp. 203-209
    • Kumar, A.1    Kruger, L.M.2
  • 35
    • 0025118538 scopus 로고
    • Usefulness of a short femur in the in utero detection of skeletal dysplasias
    • Kurtz AB, Nedleman L, Wegner RJ, et al. Usefulness of a short femur in the in utero detection of skeletal dysplasias. Radiology 1990; 177:197-200.
    • (1990) Radiology , vol.177 , pp. 197-200
    • Kurtz, A.B.1    Nedleman, L.2    Wegner, R.J.3
  • 36
    • 0027314367 scopus 로고
    • FFU complex; an analysis of 491 cases
    • Lenz W, Zygulska M and Herst J. FFU complex; an analysis of 491 cases. Hum. Genet. 1993; 91:347-356.
    • (1993) Hum. Genet. , vol.91 , pp. 347-356
    • Lenz, W.1    Zygulska, M.2    Herst, J.3
  • 37
    • 0017363557 scopus 로고    scopus 로고
    • Unilateral and asymetric limb defects in man. Delineation of the femur fibula ulna complex
    • Lenz W and Feldman U. Unilateral and asymetric limb defects in man. Delineation of the femur fibula ulna complex. Birth Defects 1997; 13:269-285.
    • (1997) Birth Defects , vol.13 , pp. 269-285
    • Lenz, W.1    Feldman, U.2
  • 38
    • 0028800576 scopus 로고
    • Amelia of the arms and femur/fibula deficiency with splenogenodal fusion in a child born to a consanguineous couple
    • Jan 30
    • Lipson AH. Amelia of the arms and femur/fibula deficiency with splenogenodal fusion in a child born to a consanguineous couple. Am J Med Genet 1995 Jan 30; 55(3): 265-8.
    • (1995) Am J Med Genet , vol.55 , Issue.3 , pp. 265-268
    • Lipson, A.H.1
  • 42
    • 0020961349 scopus 로고
    • Congenital abnormalities of femur and related lower extremity malformations
    • Feb
    • Pappas AM. Congenital abnormalities of femur and related lower extremity malformations. J. Pediatr Orthop 1983 Feb; 3(1):45-60.
    • (1983) J. Pediatr Orthop , vol.3 , Issue.1 , pp. 45-60
    • Pappas, A.M.1
  • 43
    • 0019808576 scopus 로고
    • A local outbreak of femoral hypoplasia or aplasia and femoral fibula-ulnar-complex
    • Dec
    • Robert JM, Guibaud P and Robert E. A local outbreak of femoral hypoplasia or aplasia and femoral fibula-ulnar-complex. J Genet Hum 1981 Dec; 29(4):379-394.
    • (1981) J Genet Hum , vol.29 , Issue.4 , pp. 379-394
    • Robert, J.M.1    Guibaud, P.2    Robert, E.3
  • 45
    • 0021213338 scopus 로고
    • Ulnar ray deficiency: Its various manifestations
    • Sep
    • Swanson AB, Tada K and Yanenobu K. Ulnar ray deficiency: its various manifestations; J Hand Surg (Am) 1984, Sep; 93:658-64.
    • (1984) J Hand Surg (Am) , vol.93 , pp. 658-664
    • Swanson, A.B.1    Tada, K.2    Yanenobu, K.3
  • 46
    • 0043280128 scopus 로고
    • Secon Edition, Philadelphia: W.B. Saunders Company
    • Tachdjian MO. Pediatric orthopedics. Volume 1, Secon Edition, Philadelphia: W.B. Saunders Company 1990; 206-209, 561-564, 620-621.
    • (1990) Pediatric Orthopedics , vol.1 , pp. 206-209
    • Tachdjian, M.O.1
  • 47
    • 0021356964 scopus 로고
    • Complex Congenital Anomalies of the Lower Extremities; Femoral Bifurcation, Tibial Hemimelia and Diastasis of the Ankle
    • March
    • Wolfgang GL. Complex Congenital Anomalies of the Lower Extremities; Femoral Bifurcation, Tibial Hemimelia and Diastasis of the Ankle. J Bone Joint Surg 1984 March; Vol: 66-A, No: 3:453-458.
    • (1984) J Bone Joint Surg , vol.66 A , Issue.3 , pp. 453-458
    • Wolfgang, G.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.