Prevalence:

• 1 in 200,000 births.

Ultrasound diagnosis:

• Shortening and bowing of the long bones of the legs (bilateral acute femoral angulation), narrow chest, hypoplastic scapulas, large calvarium with disproportionately small face, micrognathia.

Associated abnormalities:

• Nuchal edema, clubfeet, hydrocephalus (due to atlanto-occipital occlusion). Polyhydramnios is common.

Investigations:

• Detailed ultrasound examination.
• There is sex reversal in about 70% of male fetuses and invasive testing is necessary to determine the genetic sex.
• Campomelic dysplasia is caused by mutations in or near the SOX9 gene.

Follow up:

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

Delivery:

• Standard obstetric care and delivery should be in a tertiary center.

Prognosis:

• Mortality in the first year of life: 95%, due to severe laryngeotracheomalacia.

Recurrence:

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