pediatrics
Craniotubular Dysplasias
Frontometaphyseal dysplasia
This disorder has distinct Autosomal Dominant and The disorder becomes evident during early childhood. The supraorbital ridge is prominent, resembling a knight’s visor. The mandible is hypoplastic with anterior constriction; dental anomalies are common. Deafness develops during adulthood because sclerosis narrows the internal acoustic foramina and middle ear or may cause deformities of the ossicles. Long leg bones are moderately bowed. Progressive contractures in the digits may simulate arthritis. Height and general health are normal. Diagnosis of frontometaphyseal dysplasia is suspected by hearing loss in a patient with features of the skeletal abnormalities described previously. Typically, plain x-rays are done. On x-ray examination, bony overgrowth of the frontal region is obvious; patchy sclerosis is seen in the cranial vault. Vertebral bodies are dysplastic but not sclerotic. Iliac crests are abruptly flared, and pelvic inlet is distorted. Femoral capital epiphyses are flattened, with expansion of the femoral heads and coxa valga (hip deformity). Finger bones are undermodeled, with erosion and loss of joint space. Corrective surgery is indicated for severely disfiguring deformities, including severe Micrognathia (small mandible) , or those causing orthopedic problems. Hearing loss is treated with hearing aids. 