M Kozakiewicz1, W Perczynska-Partyka, J Kobos. 1. Clinic of Maxillofacial Surgery, Institute of Dentistry, Medical University of Lodz, Kopcinskiego 22 PL-90153 Lodz, Poland.
Abstract
UNLABELLED: Cherubism is a rare, painless, disfigurating disease primarily affecting bones of the jaws. OBJECTIVE: To report on five patients with cherubism. The symptoms of the disease, methods of management and possible mode of inheritance are discussed and literature is reviewed. PATIENTS: The study involves five cherubs, members of one family. The diagnoses were based on history, physical examination, laboratory tests, X-ray parameters, and clinical follow-up. One member of the family had surgical intervention. The remaining cases were left for observation. RESULTS: Good aesthetic and long lasting effect was reached in the operated patient. CONCLUSIONS: Treatment is unnecessary unless functional or emotional disturbances develop. An autosomal recessive pattern of inheritance is suggested for these cases, although autosomal dominant transmission has been previously established.
UNLABELLED: Cherubism is a rare, painless, disfigurating disease primarily affecting bones of the jaws. OBJECTIVE: To report on five patients with cherubism. The symptoms of the disease, methods of management and possible mode of inheritance are discussed and literature is reviewed. PATIENTS: The study involves five cherubs, members of one family. The diagnoses were based on history, physical examination, laboratory tests, X-ray parameters, and clinical follow-up. One member of the family had surgical intervention. The remaining cases were left for observation. RESULTS: Good aesthetic and long lasting effect was reached in the operated patient. CONCLUSIONS: Treatment is unnecessary unless functional or emotional disturbances develop. An autosomal recessive pattern of inheritance is suggested for these cases, although autosomal dominant transmission has been previously established.
Authors: Maria E Papadaki; Steven A Lietman; Michael A Levine; Bjorn R Olsen; Leonard B Kaban; Ernst J Reichenberger Journal: Orphanet J Rare Dis Date: 2012-05-24 Impact factor: 4.123