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Volumn 118 A, Issue 4, 2003, Pages 377-381

A female case of Sedaghatian type spondylometaphyseal dysplasia

Author keywords

Autosomal recessive inheritance; Lethal skeletal dysplasia; Pleiotropic gene defect; Spondylometaphyseal dysplasia Sedaghatian type

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; FACIES; FAMILY HISTORY; FEMALE; HUMAN; LEG LENGTH; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OSSIFICATION; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY ACIDOSIS; SEDAGHATIAN TYPE SPONDYLOMETAPHYSEAL DYSPLASIA;

EID: 0042331447     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10199     Document Type: Article
Times cited : (8)

References (7)
  • 1
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    • Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation
    • Campbell RSD, Ireland M, Bloxham CA, Chippindale AJ. 1992. Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. Pediatr Radiol 22:90-92.
    • (1992) Pediatr Radiol , vol.22 , pp. 90-92
    • Campbell, R.S.D.1    Ireland, M.2    Bloxham, C.A.3    Chippindale, A.J.4
  • 2
    • 0032513571 scopus 로고    scopus 로고
    • Spondylometaphyseal dysplasia-Sedaghatian type
    • Elcioglu N, Hall CM. 1998. Spondylometaphyseal dysplasia-Sedaghatian type. Am J Med Genet 76:410-414.
    • (1998) Am J Med Genet , vol.76 , pp. 410-414
    • Elcioglu, N.1    Hall, C.M.2
  • 3
    • 0033931345 scopus 로고    scopus 로고
    • Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrythmia and normal intrauterine growth in three siblings
    • Kerr B, Smith V, Patel R, Ladusans E, Sillence DO. 2000. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrythmia and normal intrauterine growth in three siblings. Clinical Dysmo 9: 167-172.
    • (2000) Clinical Dysmo , vol.9 , pp. 167-172
    • Kerr, B.1    Smith, V.2    Patel, R.3    Ladusans, E.4    Sillence, D.O.5
  • 5
    • 0023144716 scopus 로고
    • Brief Clinical Report: Sedaghatian congenital lethal metaphyseal chondrodysplasia - Observations in a second Iranian family and histopathological studies
    • Opitz JM, Spranger JW, Stoss HR, Pesch HJ, Azadeh B. 1987. Brief Clinical Report: Sedaghatian congenital lethal metaphyseal chondrodysplasia - Observations in a second Iranian family and histopathological studies. Am J Med Genet 26:583-590.
    • (1987) Am J Med Genet , vol.26 , pp. 583-590
    • Opitz, J.M.1    Spranger, J.W.2    Stoss, H.R.3    Pesch, H.J.4    Azadeh, B.5
  • 7
    • 0018935384 scopus 로고
    • Congenital lethal metaphyseal chondrodysplasia: A newly recognised complex autosomal recessive disorder
    • Sedaghatian MR. 1980. Congenital lethal metaphyseal chondrodysplasia: A newly recognised complex autosomal recessive disorder. Am J Med Genet 6:269-274.
    • (1980) Am J Med Genet , vol.6 , pp. 269-274
    • Sedaghatian, M.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.