pediatrics
Craniotubular Hyperostoses
Endosteal hyperostosis (van Buchem syndrome)
This disorder is usually Autosomal Recessive . In endosteal hyperostosis, genetic lesions seem to affect the normal function of osteoblasts. Overgrowth and distortion of the mandible and brow become evident during mid-childhood. Subsequently, cranial nerves become entrapped, leading to facial palsy and deafness. Life span is not compromised, stature is normal, and bones are not fragile. X-rays show widening and sclerosis of the calvaria, cranial base, and mandible. Diaphyseal endosteum in the tubular bones is thickened. Surgical decompression of entrapped nerves may be helpful. 