pediatrics
Craniotubular Dysplasias
Craniometaphyseal dysplasia
This Autosomal Dominant is caused by mutations in the Paranasal bossing develops during infancy, and progressive expansion and thickening of the skull and mandible distort the jaw and face. The encroaching bone entraps cranial nerves, causing dysfunction. Malocclusion may be troublesome; partial sinus obliteration predisposes to recurrent nasorespiratory infection. Height and general health are normal, but progressive elevation of intracranial pressure is a rare, serious complication. Diagnosis of craniometaphyseal dysplasia is suspected by typical craniofacial abnormalities, which are at times coupled with increased susceptibility to upper respiratory infection, or the disorder may be found during an evaluation for cranial nerve dysfunction that may result from entrapment at the skull base. Typically, plain x-rays are done. X-ray changes are age-related and usually evident by age 5 years. Sclerosis is the main feature in the skull. Long bones have widened metaphyses, appearing club-shaped, particularly at the distal femur. However, these changes are much less severe than those in Metaphyseal dysplasia (Pyle disease) . The spine and pelvis are unaffected. Treatment of craniometaphyseal dysplasia consists of surgical decompression of entrapped nerves and remodeling of severe bony abnormalities; however, regrowth does occur. 