Craniometaphyseal dysplasia: A rare case in radiologic perspective

Autor: Simi Thankappan, Sherin Nair
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Journal of Indian Academy of Oral Medicine and Radiology, Vol 26, Iss 4, Pp 428-431 (2014)
Druh dokumentu: article
ISSN: 0972-1363
0975-1572
DOI: 10.4103/0972-1363.155638
Popis: Craniometaphyseal dysplasia (CMD) is a very rare bone disorder of unknown etiology. It is characterized by sclerosis of the skull, craniofacial bones and even extremities. Although the exact etiology has not been understood, it is thought to be due to a mutation in the human ankylosis gene, ANKH. Here we report a case of a young male patient with extensive bony involvement. Radiographic examinations showed increased radiopacities of the maxilla and mandibular bones due to hyperostosis and sclerosis, and needed a detailed workup of bone dysplasias which made it a rare presentation for documentation.
Databáze: Directory of Open Access Journals