Literature DB >> 610427

Acromesomelic dwarfism: manifestations in childhood.

L O Langer, R K Beals, I L Solomon, P A Bard, L A Bard, E M Rissman, J G Rogers, J P Dorst, J G Hall, R S Sparkes, E A Franken.   

Abstract

Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.

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Year:  1977        PMID: 610427     DOI: 10.1002/ajmg.1320010110

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  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.  Mesomelic dysplasia--associated with other abnormalities.

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

3.  A family with diaphyseal aclasis and peripheral dysostosis.

Authors:  A P Brooks; R Wynne-Davies
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

4.  Acromesomelic dwarfism in a child with an interesting family history.

Authors:  P Borrelli; S Fasanelli; R Marini
Journal:  Pediatr Radiol       Date:  1983

5.  Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Authors:  S G Kant; A Polinkovsky; S Mundlos; B Zabel; R T Thomeer; H M Zonderland; L Shih; A van Haeringen; M L Warman
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

6.  The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).

Authors:  Frederic Shapiro; Lauren Barone; Andrew Johnson; Evelyn Flynn
Journal:  BMC Musculoskelet Disord       Date:  2014-10-15       Impact factor: 2.362

7.  Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

Authors:  Eun Jin Woo; Won-Joon Lee; Kyung-Seok Hu; Jae Joon Hwang
Journal:  PLoS One       Date:  2015-10-21       Impact factor: 3.240

  7 in total

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