Literature DB >> 7824994

Case report 870. Schneckenbecken dysplasia, possibly a new variant.

D Sillence1, W Delprado, M Edwards, K Kozlowski.   

Abstract

We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by variability or genetic heterogeneity.

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Year:  1994        PMID: 7824994     DOI: 10.1007/bf00223100

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  7 in total

1.  Fibrochondrogenesis in male twins at 24 weeks gestation.

Authors:  A Bankier; D Fortune; J Duke; D O Sillence
Journal:  Am J Med Genet       Date:  1991-01

2.  "Snail-like pelvis" chondrodysplasia: a further case report.

Authors:  G Camera; G Scarano; A Tronci; G La Cava; P Mastroiacovo
Journal:  Am J Med Genet       Date:  1991-09-15

3.  A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.

Authors:  Z Borochowitz; K L Jones; R Silbey; G Adomian; R Lachman; D L Rimoin
Journal:  Am J Med Genet       Date:  1986-09

4.  A new category of lethal short-limbed dwarfism.

Authors:  S Knowles; R Winter; D Rimoin
Journal:  Am J Med Genet       Date:  1986-09

5.  Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types.

Authors:  W A Horton; D L Rimoin; D W Hollister; R S Lachman
Journal:  J Pediatr       Date:  1979-05       Impact factor: 4.406

6.  Case report 693: Schneckenbecken dysplasia.

Authors:  A Giedion; K Biedermann; J Briner; R Soler; M Spycher
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

7.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

  7 in total

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