Literature DB >> 7428776

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

J Kunze, T Klemm.   

Abstract

Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further observation suggests that this type of mesomelic dysplasia may be due to homozygosity for the autosomal dominant gene of dyschondrosteosis.

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Mesh：

Year:  1980        PMID： 7428776     DOI： 10.1007/bf00441485

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  15 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.  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

5.  Dyschondrosteosis. A Mexican family with two affected males.

Authors:  R Lisker; I Gamboa; J Hernández
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

6.  Dyschondrosteosis.

Authors:  K Kozlowski; C Zychowicz
Journal:  Acta Radiol Diagn (Stockh)       Date:  1971-09

7.  Dyschondrosteose. Mesomelic dwarfism of Lwei and Weill.

Authors:  A H Felman; J A Kirkpatrick
Journal:  Am J Dis Child       Date:  1970-10

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

Authors:  J P Fryns; H Van Den Berghe
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

9.  Madelung's deformity. A clinical and cytogenetic study.

Authors:  A Henry; M J Thorburn
Journal:  J Bone Joint Surg Br       Date:  1967-02

10.  Madelung's disease of the wrist and dyschondrosteosis.

Authors:  J S Golding; J S Blackburne
Journal:  J Bone Joint Surg Br       Date:  1976-08
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  3 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.  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

3.  Mesomelic dysplasia--associated with other abnormalities.

Authors:  H Löhr; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183
  3 in total

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