title: Genetic study of an Indian family with cherubism.
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.
authors.affiliation: Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: Khushbu
authors.initials: K
authors.lastname: Singh
authors.forename: Ruchi
authors.initials: R
authors.lastname: Goel
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Ernst
authors.initials: E
authors.lastname: Reichenberger
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D000293:Adolescent; D002636:Cherubism / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D044465:White People