Literature DB >> 7220870

[Dyssegmental dwarfism--report on two cases (author's transl)].

R Miething, B Stöver, S Tuengerthal, D Winterling, J Svejcar.   

Abstract

Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.

Entities:  

Mesh:

Year:  1981        PMID: 7220870

Source DB:  PubMed          Journal:  Radiologe        ISSN: 0033-832X            Impact factor:   0.635


  2 in total

1.  Dyssegmental dysplasia (report of two cases with a review of the literature).

Authors:  S Fasanelli; K Kozlowski; S Reiter; D Sillence
Journal:  Skeletal Radiol       Date:  1985       Impact factor: 2.199

2.  Dyssegmental dysplasia in siblings: prenatal ultrasonic diagnosis.

Authors:  P E Andersen; M Hauge; J Bang
Journal:  Skeletal Radiol       Date:  1988       Impact factor: 2.199

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.