Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

OBJECTIVE

Campomelic dysplasia (CD) is a rare skeletal dysplasia characterized by marked femoral and tibial angulations, hypoplasic scapulae, normal upper limbs and sex reversal in 3/4 of 46,XY fetuses. Most cases are lethal in the neonatal period. Heterozygous mutations in the SOX9 gene are responsible for CD. The diagnosis is not usually made until the mid-second trimester or later.

METHODS

We describe 2 cases of CD suspected by ultrasonography in the first trimester.

RESULTS

The 2 cases presented with hygroma colli along with anomalies in the lower but not the upper limbs. Terminations of pregnancy were obtained at 14+3 and 20+6 gestational weeks. Fetopathological examinations confirmed sonographic findings.

CONCLUSION

When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis.