title: Autosomal-dominant osteopetrosis: an incidental finding.
abstract: Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life-threatening complications such as bone marrow suppression. It is caused by failure of osteoclast development and function. Osteopetrosis can be inherited as autosomal-recessive, autosomal-dominant or as X-linked traits, with the most severe forms being the autosomal-recessive ones. The severity of the disease is mild to moderate in the autosomal-dominant forms, with normal life expectancy. Diagnosis is largely based on clinical and radiographic evaluation. The present paper reports a case of autosomal-dominant osteopetrosis complicated by osteomyelitis with a short review of the condition.
authors.affiliation: Department of Oral Medicine and Radiology, Rajah Muthiah Dental College and Hospital, Chidambaram, Tamil Nadu, India. mariaomdr@gmail.com
authors.forename: Maria
authors.initials: M
authors.lastname: Rajathi
authors.forename: Ravi David
authors.initials: RD
authors.lastname: Austin
authors.forename: Philips
authors.initials: P
authors.lastname: Mathew
authors.forename: C Saravana
authors.initials: CS
authors.lastname: Bharathi
authors.forename: Kumar Chandan
authors.initials: KC
authors.lastname: Srivastava
mesh_terms: D000328:Adult; D002908:Chronic Disease; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D008297:Male; D008336:Mandibular Diseases / Q000209:etiology*; D010019:Osteomyelitis / Q000209:etiology*; D010022:Osteopetrosis / Q000175:diagnosis / Q000235:genetics*; D010026:Osteosclerosis / Q000175:diagnosis; D011862:Radiography, Panoramic; D013492:Suppuration