Literature DB >> 7173874

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

R M Winter, E M Thompson.   

Abstract

A stillborn short-limbed platyspondylic dwarf is described. Detailed analysis of the X-ray and histological characteristics of bone and cartilage suggest that this infant represents a previously unreported variant of short-limbed platyspondylic dwarfism. The designation "Luton variant" is suggested.

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Year:  1982        PMID： 7173874     DOI： 10.1007/bf00296459

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  1 in total

1.  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
  1 in total
  7 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

2.  Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Authors:  Ugo E Pazzaglia; Carla M Donzelli; Claudia Izzi; Maurizia Baldi; Giuseppe Di Gaetano; MariaPia Bondioni
Journal:  Skeletal Radiol       Date:  2014-05-25       Impact factor: 2.199

Review 3.  Examination of products of conception terminated after prenatal investigation.

Authors:  S Knowles
Journal:  J Clin Pathol       Date:  1986-10       Impact factor: 3.411

4.  Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.

Authors:  N Kaibara; K Yokoyama; H Nakano
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

Review 5.  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

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.  Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation.

Authors:  R S Campbell; M Ireland; C A Bloxham; A J Chippindale
Journal:  Pediatr Radiol       Date:  1992
  7 in total

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