Publication:

Short femur on antenatal ultrasound reveals chondrodysplasia in two twins: a case report

Chondrodysplasia is a rare autosomal recessive disorder with diverse clinical manifestations, including rhizomelic short limbs, facial anomalies such as a broad nasal bridge, epicanthus, dysplastic ears, and micrognathia. While mental impairment is uncommon, spasticity and seizures may occur. The fetal prognosis is generally favorable in the absence of additional malformations. In cases with a family history of chondrodysplasia, early morphological assessment, especially of the limbs during the first trimester, is crucial for identifying suggestive ultrasound signs. We present a rare case of chondrodysplasia in a twin pregnancy in a multiparous woman. This case underscores the importance of antenatal diagnosis and comprehensive genetic counselling to reduce the risk of transmission to future generations.