|
|||||
|
|
Genetic Study of an Indian Family with Cherubism |
|
| Authors: | Ankur Singh Khushbu Singh Ruchi Goel Ying Hu Ernst Reichenberger Seema Kapoor |
| Affiliation: | 1. Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India 2. Department of Dentistry, Sardar Patel Institute of Dental and Medical Sciences, Lucknow, India 3. Department of Ophthalmology, Guru Nanak Eye Centre, MAMC, New Delhi, India 4. Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, USA 5. M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, 110087, India |
| 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. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |