Literature DB >> 429003

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

J P Fryns, H Van Den Berghe.   

Abstract

A male newborn with the typical Langer type of mesomelic dwarfism is presented. The finding of a variable degree of Madelung's deformity and mesomelic shortening in both parents and in the maternal family tends to support the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis.

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Year:  1979        PMID： 429003     DOI： 10.1007/bf00278898

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


  9 in total

1.  Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

Authors:  C Espiritu; H Chen; P V Woolley
Journal:  Am J Dis Child       Date:  1975-03

2.  AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS.

Authors:  N J BLOCKEY; J H LAWRIE
Journal:  J Bone Joint Surg Br       Date:  1963-11

3.  DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.

Authors:  L O LANGER
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1965-09

4.  Nievergelt syndrome and its treatment: a case report.

Authors:  K A SOLONEN; M SULAMAA
Journal:  Ann Chir Gynaecol Fenn       Date:  1958

5.  A patient with Langer type of mesomelic dwarfism.

Authors:  J P Fryns; F Mulier; H Van Den Berghe
Journal:  Acta Paediatr Belg       Date:  1976 Jul-Sep

6.  Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli.

Authors:  P Beighton
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

7.  [Statural deficiency with micromesomelia. Report of 2 familial cases].

Authors:  E Campailla; B Martinelli
Journal:  Minerva Ortop       Date:  1971-05

8.  [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

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

Authors:  L O Langer
Journal:  Radiology       Date:  1967-10       Impact factor: 11.105
  9 in total
  3 in total

1.  Genetic and physical mapping of the mouse Ulnaless locus.

Authors:  C L Peichel; C M Abbott; T F Vogt
Journal:  Genetics       Date:  1996-12       Impact factor: 4.562

2.  Pseudoautosomal linkage of Hodgkin disease.

Authors:  M Horwitz; P H Wiernik
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

3.  Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

Authors:  J Kunze; T Klemm
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183
  3 in total

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