Fetal abnormalities » Skeleton
Asphyxiating thoracic dystrophy
- 1 in 70,000 births.
- Phenotypic expression varies. Characteristic features are short narrow chest with short ribs and mild to moderate rhizomelic (femur and humerus) limb shortening, which may become apparent >22 weeks’ gestation.
- The condition is also referred to as Jeune syndrome.
- Renal anomalies.
- Detailed ultrasound examination.
- Mutations in >10 genes have been identified, but 50% of cases are due to mutation in the DYNC2H1 gene.
- Follow-up should be standard.
- Standard obstetric care and delivery.
- Neonatal mortality: 60% due to pulmonary hypoplasia.
- Surviving neonates have normal intelligence but rarely live beyond their teens because renal and cardiovascular problems.
- Autosomal recessive inheritance: 25%.