Prevalence:

• 1 in 200,000 births.
• Also referred to as spondylothoracic dysostosis and short trunk dwarfism.

Ultrasound diagnosis:

• Fusion of several vertebral bodies and misalignment with the ribs which are also fused at the part nearest the spine. The trunk is short, but the arms and legs are of normal length.

Investigations:

• Detailed ultrasound examination.
• Jarcho-levin syndrome is due to mutations in the MESP2 gene.

Follow up:

• Follow-up should be standard.

Delivery:

• Standard obstetric care and delivery in a tertiary center, because the neonate may require resuscitation in the delivery room due to pulmonary hypoplasia.

Prognosis:

• About 40% die in the first few months due to pulmonary hypoplasia and hypertension. After the second year of life the condition improves . Neurodevelopment is normal.

Recurrence:

• Autosomal recessive inheritance: 25%.