Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence

The objective of this study is to identify musculoskeletal manifestations associated with Stickler syndrome from an inclusive literature review and to perform the first population study to establish its incidence. We reviewed all for us retrievable publications linked to Stickler syndrome listed in PubMed and publications quoted within these publications going back to 1954. From our medical record data bases, we identified all patients with the diagnosis of Stickler syndrome out of a population of consecutive live births born in our maternity hospital between 2000 and 2016. We identified 504 publications of which we managed to obtain and review 487, listing 6182 patients with Stickler syndrome. Musculoskeletal manifestations were recorded in 161 publications (2157 patients: 649 children, 931 adults, unknown 577), providing information on musculoskeletal findings for 1738 patients. There were 237 lower limb-, 233 spinal- and 80 upper limb abnormalities recorded for children. Hyperlaxity was recorded for 100 and unspecified pain for 70 children and for 77 abnormalities it was not specified if upper or lower limbs were affected. Coronal and axial lower limb malalignment was documented 74 times. We identified four patients with Stickler syndrome out of 87 378 consecutive live births, giving an incidence of 1 in 21 844 live births. Patients with Stickler syndrome present with a large variety of musculoskeletal manifestations. Assessment by a paediatric orthopaedic surgeon in childhood would be beneficial to identify spinal abnormalities and alignment problems, such as coxa vara/valga, abnormal femoral version, genu valgum and distal lateral tibial dysplasia, where guided growth or osteotomies might be useful to alleviate future function and symptoms.