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Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases

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...

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Main Authors: Ayşe Akyüz, Hakan Atalar, Kübra Çilesiz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Ezgü
Format: Artigo
Language:Inglês
Published: Pediatric Endocrinology and Diabetes Society 2026-06-01
Series:JCRPE
Subjects:
mucopolysaccharidosis
skeletal dysplasia
orthopedics
radiology
genetics
Online Access:https://www.jcrpe.org/articles/mucopolysaccharidosis-or-skeletal-dysplasia-clinical-and-radiologic-clues-for-differential-diagnosis-based-on-difficult-cases/doi/jcrpe.galenos.2025.2025-8-11
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