A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures

ConclusionThis case highlights the phenotypic variability of Stickler type II, broadens the list of differential diagnosis of increased bone fragility in childhood, and highlights utility of unbiased genetic testing towards establishing the correct diagnosis in children with frequent fractures.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research