메뉴 건너뛰기




Volumn 126 A, Issue 4, 2004, Pages 413-419

Spondyloepiphyseal Dysplasia Omani Type: A New Recessive Type of SED with Progressive Spinal Involvement

Author keywords

Autosomal recessive spondyloepiphyseal dysplasia; Genu valgum; Joint dislocations; Microdontia; Osteoarthrosis; Osteochondrodysplasia; Scoliosis; Short limb dwarfism

Indexed keywords

ADOLESCENT; ADULT; ADULTHOOD; AGE; ARTHRITIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BODY HEIGHT; BODY MOVEMENT; BONE RADIOGRAPHY; BRACHYDACTYLY; CAMPTODACTYLY; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; ELBOW; EPIPHYSIS; FAMILIAL DISEASE; FAMILY; FEMALE; HIP; HUMAN; INBREEDING; INTELLIGENCE; INTERVERTEBRAL ARTICULATION; JOINT DISLOCATION; KYPHOSCOLIOSIS; MALE; METAPHYSIS; OMAN; OSTEOARTHROPATHY; PEDIGREE; PRIORITY JOURNAL; SHORT STATURE; SIBLING; SPINE; SPONDYLOEPIPHYSEAL DYSPLASIA; VALGUS KNEE; VERTEBRA BODY; WRIST;

EID: 2142751024     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20606     Document Type: Article
Times cited : (40)

References (17)
  • 3
    • 0037110974 scopus 로고    scopus 로고
    • International nosology and classification of constitutional disorders of bone (2001)
    • Hall CM. 2002. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 113:65-77.
    • (2002) Am J Med Genet , vol.113 , pp. 65-77
    • Hall, C.M.1
  • 4
    • 0031865667 scopus 로고    scopus 로고
    • A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations
    • Hall CM, Elcioglu NH, Shaw DG. 1998. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. J Med Genet 35:566-572.
    • (1998) J Med Genet , vol.35 , pp. 566-572
    • Hall, C.M.1    Elcioglu, N.H.2    Shaw, D.G.3
  • 6
    • 0021086362 scopus 로고
    • Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study
    • Horton WA, Langer LO, Collins DL, Dwyer C. 1983. Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study. Am J Med Genet 16:201-211.
    • (1983) Am J Med Genet , vol.16 , pp. 201-211
    • Horton, W.A.1    Langer, L.O.2    Collins, D.L.3    Dwyer, C.4
  • 7
    • 0042888668 scopus 로고    scopus 로고
    • Genetic disorders of the skeleton: A developmental approach
    • Kornak U, Mundlos S. 2003. Genetic disorders of the skeleton: A developmental approach. Am J Hum Genet 73:447-474.
    • (2003) Am J Hum Genet , vol.73 , pp. 447-474
    • Kornak, U.1    Mundlos, S.2
  • 8
    • 0021634658 scopus 로고
    • Radiographic features of spondyloepimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases
    • Kozlowski K, Beighton P. 1984. Radiographic features of spondyloepimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. ROFO Fortschr Geb Rontgenstr Nuklearmed 141:337-341.
    • (1984) ROFO Fortschr Geb Rontgenstr Nuklearmed , vol.141 , pp. 337-341
    • Kozlowski, K.1    Beighton, P.2
  • 9
    • 0013875469 scopus 로고
    • Der metatropische Zwergwuchs
    • Maroteaux P. 1966. Der metatropische Zwergwuchs. Arch Kinderheilk 173:211-226.
    • (1966) Arch Kinderheilk , vol.173 , pp. 211-226
    • Maroteaux, P.1
  • 10
    • 0031016969 scopus 로고    scopus 로고
    • Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: A new autosomal recessive syndrome
    • Rao V, Morton RE, Young ID. 1997. Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: A new autosomal recessive syndrome. Clin Dysmorphol 6:3-12.
    • (1997) Clin Dysmorphol , vol.6 , pp. 3-12
    • Rao, V.1    Morton, R.E.2    Young, I.D.3
  • 11
    • 0028270887 scopus 로고
    • Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→ cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings
    • Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, Williams CJ. 1994. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→ cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. Arthritis Rheum 37:1078-1086.
    • (1994) Arthritis Rheum , vol.37 , pp. 1078-1086
    • Reginato, A.J.1    Passano, G.M.2    Neumann, G.3    Falasca, G.F.4    Diaz-Valdez, M.5    Jimenez, S.A.6    Williams, C.J.7
  • 12
    • 0026045782 scopus 로고
    • Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion
    • Sewell AC, Wern C, Pontz BF. 1991. Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion. Clin Genet 40:312-317.
    • (1991) Clin Genet , vol.40 , pp. 312-317
    • Sewell, A.C.1    Wern, C.2    Pontz, B.F.3
  • 13
    • 0024340437 scopus 로고
    • Brachyolmia: Radiographic and genetic evidence of heterogeneity
    • Shohat M, Lachman R, Gruber HE, Rimoin DL. 1989. Brachyolmia: Radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209-219.
    • (1989) Am J Med Genet , vol.33 , pp. 209-219
    • Shohat, M.1    Lachman, R.2    Gruber, H.E.3    Rimoin, D.L.4
  • 14
    • 0027300399 scopus 로고
    • New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin
    • Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D. 1993. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. Am J Med Genet 46:358-362.
    • (1993) Am J Med Genet , vol.46 , pp. 358-362
    • Shohat, M.1    Lachman, R.2    Carmi, R.3    Bar Ziv, J.4    Rimoin, D.5
  • 15
    • 0022293662 scopus 로고
    • Pattern recognition in bone dysplasias
    • Spranger J. 1985. Pattern recognition in bone dysplasias. Prog Clin Biol Res 200:315-342.
    • (1985) Prog Clin Biol Res , vol.200 , pp. 315-342
    • Spranger, J.1
  • 16
    • 0028157152 scopus 로고
    • The type II collagenopathies: A spectrum of chondrodysplasias
    • Spranger J, Winterpacht A, Zabel B. 1994. The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153:56-65.
    • (1994) Eur J Pediatr , vol.153 , pp. 56-65
    • Spranger, J.1    Winterpacht, A.2    Zabel, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.