DOI: 10.36347/sjmcr.2020.v08i04.007

Pages: 446-449

Cleidocranial dysplasia is a rare inherited disease that is characterized by abnormalities in bone such as skull, jaws and shoulder girdle. The present case is a boy who was presented with previous history of fever and NICU admission for 1 week for pneumonia. The boy‘s parents were first degree consanguinity with no history of similar condition or chronic disease, there were no problems during pregnancy or delivery. The patient showed normal clinical examination and laboratory investigations, whereas radiological examination showed abnormalities in chest, skull and lateral neck. The family of the patient had no history of such condition, the boy suffered this rare disease and this wasn’t inherited as this disease is dominant trait, so the mutation caused the disease in our patient is a sporadic.