Prevalence:

• 1 in 70,000 births.

Ultrasound diagnosis:

• 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.

Associated abnormalities:

• Renal anomalies.

Investigations:

• Detailed ultrasound examination.
• Mutations in >10 genes have been identified, but 50% of cases are due to mutation in the DYNC2H1 gene.

Follow up:

• Follow-up should be standard.

Delivery:

• Standard obstetric care and delivery.

Prognosis:

• Neonatal mortality: 60% due to pulmonary hypoplasia.
• Surviving neonates have normal intelligence but rarely live beyond their teens because renal and cardiovascular problems.

Recurrence:

• Autosomal recessive inheritance: 25%.