Osteoectasia with hyperphosphatasia

or juvenile Pagets disease and hereditary hyperphosphatasia. This autosomal recessive disorder is characterized by generalized cortical thickening of bones and chronic sustained elevation of serum levels of alkaline phosphatase. Small stature, large skull, fusiform swelling and bowing of the tubular bones, and a tendency towards fracture are typical features. Affected children are unable to walk, crawl or sit up. Virtually every bone is affected. Marked calvarial thickening, bowing and widening of the tubular bones, vertebral body flattening and protrusio acetabuli are seen. Usually the patient develops severe deformities and incapacity.