Literature DB >> 6866577

Acromesomelic dwarfism in a child with an interesting family history.

P Borrelli, S Fasanelli, R Marini.   

Abstract

Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.

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Year:  1983        PMID: 6866577     DOI: 10.1007/bf01624409

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


  7 in total

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Authors:  R A Pfeiffer
Journal:  Rofo       Date:  1976-08

2.  The differential diagnosis of the short-limbed dwarfs presenting at birth.

Authors:  R N Mukherji; P D Moss
Journal:  Postgrad Med J       Date:  1977-04       Impact factor: 2.401

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Authors:  P D Pallister
Journal:  Am J Med Genet       Date:  1978

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Journal:  Br J Radiol       Date:  1980-10       Impact factor: 3.039

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

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Authors:  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
Journal:  Am J Med Genet       Date:  1977

7.  Cone-shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome.

Authors:  A Giedion
Journal:  Ann Radiol (Paris)       Date:  1967
  7 in total
  4 in total

1.  Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.

Authors:  Priyanka Srivastava; Moni Tuteja; Ashwin Dalal; Kausik Mandal; Shubha R Phadke
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

2.  Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Authors:  Cynthia F Bartels; Hulya Bükülmez; Pius Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh I Al-Gazali; Sarina Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong Ae Kim; Yanick Crow; Nancy E Braverman; Focco van den Akker; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2004-05-14       Impact factor: 11.025

3.  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

4.  Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Authors:  Saadullah Khan; Raja Hussain Ali; Sanaullah Abbasi; Muhammad Nawaz; Noor Muhammad; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2012-06-12       Impact factor: 2.103

  4 in total

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