Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine.

Pediatric first aid, trauma knowledge, and attitude among parents and general population in Aseer region, Southern Saudi Arabia.

Objectives: Around the world, accidents and injuries are the leading causes of death among children. Because mothers and family members commonly administer first aid at home and at preschools, it's critical to learn what parents and the public think about children's mishaps. Our objective was to assess parents' knowledge and attitude toward pediatric first aid in the Aseer region of Saudi Arabia.