pediatrics
Craniotubular Hyperostoses
Sclerosteosis
This Autosomal Recessive is caused by a mutation in the Overgrowth and sclerosis of the skeleton, particularly of the skull, develop during early childhood. Height and weight are often excessive. Initial symptoms and signs of sclerosteosis may include deafness and facial palsy due to cranial nerve entrapment. Distortion of facies, apparent by age 10 years, eventually becomes severe. Cutaneous or bony Syndactyly of the second and third fingers distinguishes sclerosteosis from other forms of craniotubular hyperostoses. Diagnosis of sclerosteosis is suspected by characteristic skeletal abnormalities, particularly when the patient also has syndactyly. Typically, plain x-rays are done. Predominant x-ray features are gross widening and sclerosis of the calvaria and mandible. Vertebral bodies are spared, although their pedicles are dense. Pelvic bones are sclerotic but have normal contours. Long bones have sclerosed, hyperostotic cortices and undermodeled shafts. A diagnostic genetic test is available. Surgery to relieve intracranial pressure or to decompress entrapped nerves may help. 