Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

OBJECTIVE

To report a rare case of Desbuquois dysplasia Type 1 (DBQD1) diagnosed prenatally, caused by mutations in the CANT1 gene.

CASE REPORT: DBQD1 is an autosomal recessive skeletal dysplasia with severe disproportionate dwarfism, joint laxity, and multiple skeletal anomalies. A 26-year-old woman, gravida 3, para 1, abortus 1, was referred due to short femur (FL) and humerus (HL) lengths on ultrasound. The patient and her husband are consanguineous. Ultrasound at our clinic revealed a hypoplastic thorax, severe limb anomalies, brachydactyly, overlapping fingers, clubfoot, and rocker-bottom feet, along with ventricular septal defects (VSDs). Genetic testing identified a homozygous pathogenic variant in the CANT1 gene (c.902_906dup, p.Ser303AlafsTer21). Both parents were heterozygous carriers. Following genetic counseling, the family opted for pregnancy termination.

CONCLUSION

This case highlights the importance of comprehensive genetic testing and early, precise diagnosis for informed decision-making in managing rare skeletal dysplasias.