Literature DB >> 7393671

Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia. Clinical and radiological differential diagnostic features.

U Burck, E Schaefer, K R Held.   

Abstract

A girl with a "new" variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed.

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Mesh:

Year:  1980        PMID: 7393671     DOI: 10.1007/bf01464311

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


  7 in total

1.  Mesomelic skeletal dysplasias.

Authors:  I Kaitila; J T Leisti; D L Rimoin
Journal:  Clin Orthop Relat Res       Date:  1976 Jan-Feb       Impact factor: 4.176

2.  [A new mesomelic type of dwarfism].

Authors:  B Wegmann
Journal:  Helv Paediatr Acta       Date:  1972-07

3.  [Ulno-fibular dysplasia. An autosome-dominant hereditary micromesomelia resembling the Nievergelt syndrome].

Authors:  K Reinhardt; R A Pfeiffer
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1967-09

4.  A newly recognized dwarfing syndrome.

Authors:  M Robinow; F N Silverman; H D Smith
Journal:  Am J Dis Child       Date:  1969-06

5.  [Acromesomelic dwarfism].

Authors:  P Maroteaux; B Martinelli; E Campailla
Journal:  Presse Med       Date:  1971-10-09       Impact factor: 1.228

6.  Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.

Authors:  L O Langer
Journal:  Radiology       Date:  1967-10       Impact factor: 11.105

7.  Dominant mesomelic dwarfism of the hypoplastic tibia, radius type.

Authors:  J G Leroy; J De Vos; J Timmermans
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

  7 in total
  3 in total

1.  Mesomelic dysplasia with "normal or relatively long fibula", slight micrognathia and brachymetatarsals (IV-V) in a six-year-old girl.

Authors:  C Sandomenico; M L Sandomenico
Journal:  Pediatr Radiol       Date:  1983

2.  Mesomelic dysplasia with punctate epiphyseal calcifications--a new entity of chondrodysplasia punctata?

Authors:  U Burck
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

3.  Mesomelic dysplasia of the upper extremities associated with other abnormalities: a new syndrome?

Authors:  K Kozlowski; L Bacha; L Brachimi; R Massen
Journal:  Pediatr Radiol       Date:  1993
  3 in total

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