Literature DB >> 6879209

Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.

N Kaibara, K Yokoyama, H Nakano.   

Abstract

A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.

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Year:  1983        PMID： 6879209     DOI： 10.1007/bf00355385

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


  6 in total

1.  The lethal chondrodysplasias.

Authors:  P Maroteaux; V Stanescu; R Stanescu
Journal:  Clin Orthop Relat Res       Date:  1976 Jan-Feb       Impact factor: 4.176

2.  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

3.  Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

Authors:  L O Langer; J W Spranger; I Greinacher; R C Herdman
Journal:  Radiology       Date:  1969-02       Impact factor: 11.105

4.  Thanatophoric dwarfism and cloverleaf skull ("kleeblattschädel").

Authors:  R S Young; R Pochaczevsky; J C Leonidas; I B Wexler; H Ratner
Journal:  Radiology       Date:  1973-02       Impact factor: 11.105

5.  Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

Authors:  R M Saldino
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1971-05

6.  Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant?

Authors:  R M Winter; E M Thompson
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
  6 in total
  2 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

Review 2.  Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Authors:  Luitgard Neumann; Jürgen Kunze; Markus Uhl; Brigitte Stöver; Bernhard Zabel; Jürgen Spranger
Journal:  Pediatr Radiol       Date:  2003-09-05
  2 in total

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