Stickler case report: an unusual cause of prenatal diagnosis of skeletal dysplasias

Abstract Stickler syndrome is an autosomal dominant inherited disorder of connective tissue, mainly caused by mutations in genes encoding type II, IX, and XI collagens. The syndrome affects multiple systems, with manifestations including myopia, retinal detachment, hearing loss, orofacial and skeletal abnormalities, including premature arthropathies. Although prenatal diagnosis is difficult due to the mild or late nature of some features, advances in ultrasound and genetics have improved detection. We present the case of a 21-week pregnant woman whose fetus showed short long bones on routine ultrasound. Bone measurements were at the lower limit, but no major malformations were observed. Genetic studies confirmed a pathogenic mutation in the “COL2A1” gene, which is associated with Stickler syndrome type I. The mother was found to be a carrier of the mutation. Following the diagnosis, the parents chose to terminate the pregnancy. This case highlights the importance of a multidisciplinary approach in prenatal diagnosis, combining advanced ultrasound, genetic studies, and specialized counseling. It also underlines the relevance of genetic counseling for families affected by dominantly inherited diseases. Early detection is essential to guide management and informed reproductive decisions.