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Volumn 85, Issue 2, 1999, Pages 134-139

A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: Diagnostic strategies and outcome

Author keywords

Anatomical specimen; Atelosteogenesis type I; Boomerang dysplasia; Piepkorn type skeletal dysplasia

Indexed keywords

ARTICLE; BONE DEMINERALIZATION; BONE DYSPLASIA; BRACHYCEPHALY; CLEFT LIP; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; HUMAN; HYPERTELORISM; MALE; MAMMOGRAPHY; MICROGNATHIA; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SHORT STATURE;

EID: 0033031541     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990716)85:2<134::AID-AJMG7>3.0.CO;2-C     Document Type: Article
Times cited : (8)

References (23)
  • 1
    • 0032066328 scopus 로고    scopus 로고
    • Historical aspects of the study of malformations in the Netherlands
    • Baljet B, Oostra RJ. 1998. Historical aspects of the study of malformations in the Netherlands. Am J Med Genet 77:91-99.
    • (1998) Am J Med Genet , vol.77 , pp. 91-99
    • Baljet, B.1    Oostra, R.J.2
  • 2
    • 0026729852 scopus 로고
    • Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
    • Canki-Klain N, Stanescu V, Stanescu R, Śinkovec J, Debevec M, Maroteaux P. 1992. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? Ann Génét (Paris) 35:129-133.
    • (1992) Ann Génét (Paris) , vol.35 , pp. 129-133
    • Canki-Klain, N.1    Stanescu, V.2    Stanescu, R.3    Śinkovec, J.4    Debevec, M.5    Maroteaux, P.6
  • 3
    • 0019969694 scopus 로고
    • Micromelia, polysyndactyly, multiple malformations, and fragile bones in a still born child
    • Carpenter BF, Hunter AGW. 1982. Micromelia, polysyndactyly, multiple malformations, and fragile bones in a still born child. J Med Genet 19:311-315.
    • (1982) J Med Genet , vol.19 , pp. 311-315
    • Carpenter, B.F.1    Hunter, A.G.W.2
  • 5
    • 0027428324 scopus 로고
    • Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia
    • Greally MT, Jewett T, Smith WL, Penick GD, Williamson RA. 1993. Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia. Am J Med Genet 47:1086-1091.
    • (1993) Am J Med Genet , vol.47 , pp. 1086-1091
    • Greally, M.T.1    Jewett, T.2    Smith, W.L.3    Penick, G.D.4    Williamson, R.A.5
  • 6
    • 0025849669 scopus 로고
    • Atelosteogenesis I and boomerang dysplasia: A question of nosology
    • Hunter AGW, Carpenter BF. 1991. Atelosteogenesis I and boomerang dysplasia: a question of nosology. Clin Genet 39:471-480.
    • (1991) Clin Genet , vol.39 , pp. 471-480
    • Hunter, A.G.W.1    Carpenter, B.F.2
  • 11
    • 0032079382 scopus 로고    scopus 로고
    • Congenital anomalies in the teratologica collection of Museum Vrolik in Amsterdam, The Netherlands. I. Syndromes with multiple congenital anomalies
    • Oostra RJ, Baljet B, Dijkstra PF, Hennekam RCM. 1998a. Congenital anomalies in the teratologica collection of Museum Vrolik in Amsterdam, The Netherlands. I. Syndromes with multiple congenital anomalies. Am J Med Genet 77:100-115.
    • (1998) Am J Med Genet , vol.77 , pp. 100-115
    • Oostra, R.J.1    Baljet, B.2    Dijkstra, P.F.3    Hennekam, R.C.M.4
  • 12
    • 0032079986 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II. Skeletal dysplasias
    • Oostra RJ, Baljet B, Dijkstra PF, Hennekam RCM. 1998b. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II. Skeletal dysplasias. Am J Med Genet 77: 116-134.
    • (1998) Am J Med Genet , vol.77 , pp. 116-134
    • Oostra, R.J.1    Baljet, B.2    Dijkstra, P.F.3    Hennekam, R.C.M.4
  • 13
    • 0032581131 scopus 로고    scopus 로고
    • Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen
    • Oostra RJ, Baljet B, Hennekam RCM. 1998c. Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet 78:195-197.
    • (1998) Am J Med Genet , vol.78 , pp. 195-197
    • Oostra, R.J.1    Baljet, B.2    Hennekam, R.C.M.3
  • 14
    • 0031717452 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III. Primary field defects, sequences, and other complex anomalies
    • Oostra RJ, Baljet B, Verbeeten BWJM, Hennekam RCM. 1998d. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III. Primary field defects, sequences, and other complex anomalies. Am J Med Genet 80:46-59.
    • (1998) Am J Med Genet , vol.80 , pp. 46-59
    • Oostra, R.J.1    Baljet, B.2    Verbeeten, B.W.J.M.3    Hennekam, R.C.M.4
  • 15
    • 0031720318 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV. Closure defects of the neural tube
    • Oostra RJ, Baljet B, Hennekam RCM. 1998e. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV. Closure defects of the neural tube. Am J Med Genet 80:60-73.
    • (1998) Am J Med Genet , vol.80 , pp. 60-73
    • Oostra, R.J.1    Baljet, B.2    Hennekam, R.C.M.3
  • 16
    • 0031671048 scopus 로고    scopus 로고
    • Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V. Conjoined and acardiac twins
    • Oostra RJ, Baljet B, Verbeeten BWJM, Hennekam RCM. 1998f. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V. Conjoined and acardiac twins. Am J Med Genet 80:74-89.
    • (1998) Am J Med Genet , vol.80 , pp. 74-89
    • Oostra, R.J.1    Baljet, B.2    Verbeeten, B.W.J.M.3    Hennekam, R.C.M.4
  • 17
    • 0017689094 scopus 로고
    • A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate, cardiovascular and urogenital anomalies, and severe ossification defect
    • Piepkorn M, Karp LE, Hickok D, Wiegenstein L, Hall JG. 1977. A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate, cardiovascular and urogenital anomalies, and severe ossification defect. Teratology 16:345-350.
    • (1977) Teratology , vol.16 , pp. 345-350
    • Piepkorn, M.1    Karp, L.E.2    Hickok, D.3    Wiegenstein, L.4    Hall, J.G.5
  • 19
    • 0344765222 scopus 로고
    • The lethal chrondrodystrophies
    • Harris H, Hirschhorn K, editors. New York: Plenum Press
    • Spranger J, Maroteaux P 1990. The lethal chrondrodystrophies. In: Harris H, Hirschhorn K, editors. Advances in human genetics, vol. 19. New York: Plenum Press. p 74.
    • (1990) Advances in Human Genetics , vol.19 , pp. 74
    • Spranger, J.1    Maroteaux, P.2
  • 20
    • 0020531330 scopus 로고
    • Boomerang dysplasia. A new form of neonatal dwarfism
    • Tenconi R, Kozlowski K, Laraiollia. 1983. Boomerang dysplasia. A new form of neonatal dwarfism. Fortschr Rontgenstr 138:378-380.
    • (1983) Fortschr Rontgenstr , vol.138 , pp. 378-380
    • Tenconi, R.1    Kozlowski, K.2    Laraiollia3
  • 21
    • 0030819403 scopus 로고    scopus 로고
    • Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]
    • Urban M, Rogalla P, Tinschert S, Krietsch P. 1997. Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. Am J Med Genet 72:307-314.
    • (1997) Am J Med Genet , vol.72 , pp. 307-314
    • Urban, M.1    Rogalla, P.2    Tinschert, S.3    Krietsch, P.4
  • 22
    • 0031050247 scopus 로고    scopus 로고
    • Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia
    • Urioste M, Rodríguez JI, Bofarull JM, Torán N, Ferrer C, Villa A. 1997. Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. Am J Med Genet 68:342-346.
    • (1997) Am J Med Genet , vol.68 , pp. 342-346
    • Urioste, M.1    Rodríguez, J.I.2    Bofarull, J.M.3    Torán, N.4    Ferrer, C.5    Villa, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.