Ayşe AKYÜZ, Hakan ATALAR, Kübra ÇİLESİZ, Aslı İNCİ, İlyas OKUR, Leyla TÜMER, Fatih EZGÜ
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(2):282-287
Objective: The skeletal abnormalities of mucopolysaccharidosis (MPS) and skeletal dysplasia (SD) may be similar and even indistinguishable. This study aims to elucidate clinical clues and overlapping features that may assist in the different diagnosis. Methods: The clinical features of patients who were first referred to endocrinology or rheumatology department for short stature or joint abnormalities were addressed and signs were examined upon different diagnosis. Results: Three patients (I, II and III) were diagnosed with SD with overlapping and also distinguishing skeletal features compared with MPS. An atypical presentation defined in patient IV who was diagnosed with Morquio syndrome. Patients V and VI were diagnosed with MPS with early onset and typical skeletal features accompanied with additional systemic manifestations uncommon in SD. Conclusion: In conclusion, this study emphasizes the clinical and radiological evaluation and nuances distinctions in clinical presentations that will highlight the challenges and guide to distinguishing different diagnosis of MPS and SD in atypical presentations for achieving the accurate diagnosis.
