- 1 in 500,000 births.
- Severe shortening of the limbs, narrow thorax, clubfeet, dislocations of the hips, knees, and elbows.
- Associated with prominent forehead, hypertelorism, micrognathia and cleft palate and ‘hitchhiker thumbs’’. The features are similar, but more severe, to those of diastrophic dysplasia.
- Detailed ultrasound examination.
- Atelosteogenesis is due to mutations in the FLNB and SLC26A2 genes.
- If the mutation in the family is known, prenatal diagnosis is best performed by chorion villus sampling and DNA analysis.
- If pregnancy continues, follow-up should be standard.
- Standard obstetric care and delivery.
- Lethal in utero or shortly after birth due to respiratory failure.
- In the majority of cases (de novo mutations): no increased risk.
- In the rare cases of autosomal recessive inheritance: 25%.