Anteroposterior radiograph of the skull showed massive sclerosis of the skull bone associated with significant<unk><unk>  and enlargement of the mandible secondary to<unk>  new bone formation. Most infants with<unk>  are diagnosed by physical examination. X-rays can confirm the presence of bone changes and soft tissue swelling. Biopsy of the affected areas can confirm the presence of typical histopathological changes. No specific blood tests exist, but tests such as erythrocyte sedimentation rate (ESR) and alkaline phosphatase levels are often elevated. A complete blood count may show anemia (low red blood cell count) and leukocytosis (high white blood cell count). Other tests may be done to help exclude other diagnoses. Ultrasound imaging can help diagnose prenatal cases. Differential diagnosis Osteomyelitis (bone infection), which is much more common than<unk> , must be excluded, since it requires urgent treatment. Other diagnoses that can mimic this disorder and need to be excluded include physical trauma, child abuse, Vitamin A excess, hyperphosphatemia, prostaglandin E1 and E2 administration, scurvy, infections (including syphilis), Ewing sarcoma, and metastatic neuroblastoma.
Infantile cortical hyperostosis
Acrofrontofacionasal dysostosis
Melorheostosis
Acrodysostosis
Pycnodysostosis
Buccal exostosis
Spondylocostal dysostosis
Thanatophoric dysplasia