Cone-shaped knee epiphyses : important diagnostic sign

Background: The first case of Bellini bone dysplasia in the Polish literature is reported. Case Report: Skeletal survey of a 3 1/2 year old girl with a history of mental retardation, short stature, dysmorphic face and short hands and feet was received for consultation. Conclusions: Cone shaped knee epiphyses is a diagnostic radiographic sign of Bellini bone dysplasias. This disorder is recognizable on the basis of skeletal survey alone. For diagnosis of the type of Bellini bone dysplasia, concurrent phenotypic evaluation of the patient is necessary.