Prevalence:

• 1 in 500,000 births.

Ultrasound diagnosis:

• 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.

Investigations:

• 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.

Follow up:

• If pregnancy continues, follow-up should be standard.

Delivery:

• Standard obstetric care and delivery.

Prognosis:

• Lethal in utero or shortly after birth due to respiratory failure.

Recurrence:

• In the majority of cases (de novo mutations): no increased risk.
• In the rare cases of autosomal recessive inheritance: 25%.