| Popis: |
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis. |
