Global InformationAsphyxiating thoracic dysplasia information
| Asphyxiating thoracic dysplasia | |
|---|---|
| Other names | Jeune syndrome, asphyxiating thoracic chondrodystrophy, infantile thoracic dystrophy |
 | |
| CXR of a newborn with asphyxiating thoracic dysplasia. Note the short ribs. | |
| Specialty | Medical genetics  |
| Symptoms | Narrow chest, short ribs, shortened bones of the arms and legs, unusually shaped pelvis, and extra fingers and/or toes |
| Treatment | Mechanical ventilation, endotracheal suctioning, postural drainage, Vertical expandable prosthetic titanium rib (VEPTR), Lateral thoracic expansion, or other chest reconstruction surgeries. |
| Frequency | 1 in 100,000 to 130,000 |
| Deaths | Mortality of affected: 60-70% |
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) [1] that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune.[2] Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States.[1][3]
People who are affected with this disorder live short lives either only into infancy or early childhood.[2] If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as IFT80, DYNC2H1, WDR19, IFT140 and TTC21B have been identified in some families with the condition as possible causes of the disorder. Treatment is based on the signs and symptoms present in each person.[4]
- ^ a b Kondo, Hiroaki; Hyuga, Shunsuke; Fujita, Tomoe; Adachi, Mariko; Mochizuki, Junko; Okutomi, Toshiyuki (2021-02-11). "First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report". A&A Practice. 15 (2): e01400. doi:10.1213/XAA.0000000000001400. ISSN 2575-3126. PMID 33577174. S2CID 231898002.
- ^ a b de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC (January 2010). "Jeune syndrome: description of 13 cases and a proposal for follow-up protocol". European Journal of Pediatrics. 169 (1): 77–88. doi:10.1007/s00431-009-0991-3. PMC 2776156. PMID 19430947.
- ^ Saletti D, Grigio TR, Tonelli D, Ribeiro Júnior OD, Marini F. Case report: anesthesia in patients with asphyxiating thoracic dys-trophy: Jeune syndrome. Rev Bras Anestesiol. 2012;62:424–431.
- ^ "Jeune syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-11-14.