N McArthur1, A Rehm2, N Shenker3, A J Richards4, A M McNinch4, A V Poulson4, J Tanner5, M P Snead4, P W P Bearcroft5. 1. Department of Orthopaedics, Addenbrookes Hospital, Hills Rd, Cambridge CB2 0QQ, UK. Electronic address: nicholasmcarthur@gmail.com. 2. Department of Paediatric Orthopaedics, Addenbrookes Hospital, Hills Rd, Cambridge CB2 0QQ, UK. 3. Department of Rheumatology, Addenbrookes Hospital, Hills Rd, Cambridge CB2 0QQ, UK. 4. NHS England Stickler Syndrome Diagnostic Service, BOX 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK. 5. Department of Radiology, Addenbrookes Hospital, Hills Rd, Cambridge CB2 0QQ, UK.
Abstract
AIM: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. PATIENTS AND METHODS: It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndrome patients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes. These radiographs were reviewed and 74 knee, 45 pelvic, and 47 spinal examinations were evaluated. RESULTS: Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. The findings were reviewed in the light of each patient's specific genetic Stickler syndrome subtype. CONCLUSION: The prevalence of orthopaedic abnormalities overall in the present series is substantially below those published in previous smaller case series. This would support the more recent findings of an array of ocular only phenotypes of Stickler syndrome described in the literature.
AIM: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. PATIENTS AND METHODS: It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndromepatients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes. These radiographs were reviewed and 74 knee, 45 pelvic, and 47 spinal examinations were evaluated. RESULTS: Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. The findings were reviewed in the light of each patient's specific genetic Stickler syndrome subtype. CONCLUSION: The prevalence of orthopaedic abnormalities overall in the present series is substantially below those published in previous smaller case series. This would support the more recent findings of an array of ocular only phenotypes of Stickler syndrome described in the literature.
Authors: Evelise Brizola; Maria Gnoli; Morena Tremosini; Paolo Nucci; Sara Bargiacchi; Andrea La Barbera; Sabrina Giglio; Luca Sangiorgi Journal: Mol Genet Genomic Med Date: 2020-06-17 Impact factor: 2.183