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Genetic study of an Indian family with cherubism.

Research paper by Ankur A Singh, Khushbu K Singh, Ruchi R Goel, Ying Y Hu, Ernst E Reichenberger, Seema S Kapoor

Indexed on: 06 Sep '13Published on: 06 Sep '13Published in: The Indian Journal of Pediatrics



Abstract

Cherubism (OMIM : 118400) is an autosomal dominant disorder affecting mainly facial bones leading to disfigurement of face needing medical and surgical attention besides impairing the self esteem of person. At present, there is no medical cure and there is limited indication for surgery in such cases. So, correct diagnosis is of paramount importance to both treating physician and family. Here, the authors report a family with two affected members (mother and daughter) who were tested positive for a known pathogenic mutation and thus offered timely treatment and adequate genetic counseling.