Literature DB >> 3222061

Chondrodystrophic dwarfism and multiple malformations in two sisters.

U E Pazzaglia1, L Pedrotti, G Beluffi, L Ceciliani.   

Abstract

A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters. Only nine cases with similar features have been reported in the literature.

Entities:  

Mesh：

Year:  1988        PMID： 3222061     DOI： 10.1007/bf02388409

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


  2 in total

1.  [Bone dysplasia with dwarfism and diffuse skeletal alterations].

Authors:  C Piussan; P Maroteaux; I Castroviejo; B Risbourg
Journal:  Arch Fr Pediatr       Date:  1975 Jun-Jul

2.  [APROPOS OF A FURTHER CASE OF DIASTROPHIC NANISM].

Authors:  N NEIMANN; M PIERSON; M MANCIAUX; J SAPELIER
Journal:  Arch Fr Pediatr       Date:  1964-10
  2 in total
  4 in total

1.  Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.

Authors:  S Jéquier; G Perreault; P Maroteaux
Journal:  Pediatr Radiol       Date:  1992

2.  A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Authors:  G Nishimura; S Sato; T Ogata; S Tamai; T Hasegawa; N Matsuo
Journal:  Eur J Pediatr       Date:  1996-12       Impact factor: 3.183

3.  Desbuquois syndrome.

Authors:  M Le Merrer; I D Young; V Stanescu; P Maroteaux
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183

4.  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
  4 in total

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