Literature DB >> 1870932

Spondylometepiphyseal dysplasia congenita, Strudwick type.

S M Shebib1, A E Chudley, M H Reed.   

Abstract

A case of spondylometepiphyseal dysplasia congenita, Strudwick type is presented. At birth, this condition cannot be distinguished from spondyloepiphyseal dysplasia congenita. Features in common include delayed ossification of the public bones and proximal femoral epiphyses, coxa vara, odontoid hypoplasia and lumbar lordosis. The distinguishing radiologic feature of this condition is the striking irregularity of long bone metaphyses which develops during infancy.

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Year:  1991        PMID: 1870932     DOI: 10.1007/bf02018630

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  7 in total

1.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

2.  Linear growth of the thoracic spine in chest roentgenograms from birth to 16 years.

Authors:  G Currarino; B Williams; J S Reisch
Journal:  Skeletal Radiol       Date:  1986       Impact factor: 2.199

3.  Metacarpophalangeal length in the evaluation of skeletal malformation.

Authors:  S M Garn; K P Hertzog; A K Poznanski; J M Nagy
Journal:  Radiology       Date:  1972-11       Impact factor: 11.105

4.  Autosomal recessive spondylometepiphyseal dysplasia, type Strudwick.

Authors:  B G Kousseff; P Nichols
Journal:  Am J Med Genet       Date:  1984-02

5.  Genetic heterogeneity of spondyloepiphyseal dysplasia congenita?

Authors:  J W Spranger; P Maroteaux
Journal:  Am J Med Genet       Date:  1982-11

6.  Spondylometepiphyseal dysplasia, Strudwick type.

Authors:  C E Anderson; D O Sillence; R S Lachman; K Toomey; M Bull; J Dorst; D L Rimoin
Journal:  Am J Med Genet       Date:  1982-11

7.  Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

Authors:  L W Murray; J Bautista; P L James; D L Rimoin
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

  7 in total
  2 in total

1.  Micromelic dwarfism--humerus, femur, tibia type. Report of a case.

Authors:  A Baxova; K Kozlowski; I Netriova
Journal:  Pediatr Radiol       Date:  1993

2.  A new form or a variant of SMD type A4.

Authors:  Ivo Marik; Olga Hudakova; Sarka Petrasova; Lukasz Kuszel; Malwina Czarny-Ratajczak; Kazimierz Kozlowski
Journal:  J Appl Genet       Date:  2012-04-24       Impact factor: 3.240

  2 in total

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