Fetal abnormalities » Skeleton
- 1 in 200,000 births.
- 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.
- Nuchal edema, clubfeet, hydrocephalus (due to atlanto-occipital occlusion). Polyhydramnios is common.
- 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.
- If pregnancy continues, follow-up should be standard.
- Standard obstetric care and delivery should be in a tertiary center.
- Mortality in the first year of life: 95%, due to severe laryngeotracheomalacia.
- In the majority of cases (de novo mutations): no increased risk.
- In the rare cases of autosomal recessive inheritance: 25%.