Surgical treatment of a 36-year-old patient with asphyxiating thoracic dysplasia.
Sign Up to like & getrecommendations! Published in 2022 at "Interactive cardiovascular and thoracic surgery"
DOI: 10.1093/icvts/ivab217
Abstract: Asphyxiating thoracic dysplasia is a rare and dangerous genetic disease. Many children with this disease die early in life of severe hypoxia, and it is extremely rare that they survive to adulthood. We recently treated… read more here.
Keywords: patient asphyxiating; asphyxiating thoracic; year old; thoracic dysplasia ... See more keywords
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1125473
Abstract: Background and aims: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) represents a type of severe fetal skeletal dysplasia (SD) characterized by shortened limbs, narrow thorax with or without polydactyly, which is caused by… read more here.
Keywords: dysplasia; short rib; rib thoracic; gene ... See more keywords