Literature DB >> 859790

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

R N Mukherji, P D Moss.   

Abstract

Attention is drawn to the fact that in a number of types of short-limbed dwarfism a precise diagnosis can be made in the neonatal period. Examples are given and the prognostic and genetic implications are discussed. It is important to be able to advise parents of the likely outlook for the infant and of the genetic implication. Early diagnosis is therefore not merely an academic exercise.

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Year:  1977        PMID: 859790      PMCID: PMC2496497          DOI: 10.1136/pgmj.53.618.204

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN: 0032-5473            Impact factor:   2.401


  16 in total

1.  [Diastrophic nanism].

Authors:  M LAMY; P MAROTEAUX
Journal:  Presse Med       Date:  1960-11-23       Impact factor: 1.228

2.  [Asphyxiating thoracic dystrophy with familial characteristics].

Authors:  M JEUNE; C BERAUD; R CARRON
Journal:  Arch Fr Pediatr       Date:  1955

3.  A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

Authors:  R W Ellis; S van Creveld
Journal:  Arch Dis Child       Date:  1940       Impact factor: 3.791

4.  Hypophosphatasia; a new developmental anomaly.

Authors:  J C RATHBUN
Journal:  Am J Dis Child       Date:  1948-06

5.  [Unusual bone changes in thymic alymphoplasia].

Authors:  W J Alexander; J S Dunbar
Journal:  Ann Radiol (Paris)       Date:  1968

6.  Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

Authors:  R M Saldino
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1971-05

7.  A case of Swiss-type agammaglobulinaemia and achondroplasia.

Authors: 
Journal:  Br Med J       Date:  1966-12-03

8.  Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships.

Authors:  V A McKusick; H E Cross
Journal:  JAMA       Date:  1966-02-28       Impact factor: 56.272

9.  A childhood syndrome of bone dysplasia, retinal detachment and deafness.

Authors:  R Roaf; J B Longmore; R M Forrester
Journal:  Dev Med Child Neurol       Date:  1967-08       Impact factor: 5.449

10.  [Thanatophoric dwarfism].

Authors:  P Maroteaux; M Lamy; J M Robert
Journal:  Presse Med       Date:  1967-11-22       Impact factor: 1.228

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  1 in total

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

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

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