Fetal abnormalities » Skeleton
- 1 in 500,000 births.
- Phenotypic expression varies. Characteristic features include severe shortening and bowing
of all long bones, multiple joint flexion contractures and scoliosis, clubfeet, and abducted position of the thumbs referred to as ‘hitchhiker thumb’.
- Micrognathia, cleft palate and thickened deformed ‘cauliflower’ ears.
- Detailed ultrasound examination.
- Diastrophic dysplasiais one of several skeletal disorders caused by mutations in the SLC26A2 gene.
- Follow-up should be standard.
- Standard obstetric care and delivery should be in a tertiary center.
- This disease is not lethal and neurodevelopment is normal.
- Long-term medical problems include short stature, progressive scoliosis and joint deformities making it difficult to walk.
- Autosomal recessive inheritance: 25%.