MCCUNE-ALBRIGHT SYNDROME WITHOUT ENDOCRINE DYSFUNCTION: CASE REPORT IN A YOUNG BOY
| Autor: | Agrawal Pankaj, Elkashif Sami |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
musculoskeletal diseases
Pathology medicine.medical_specialty biology business.industry Fibrous dysplasia 030209 endocrinology & metabolism medicine.disease McCune–Albright syndrome 03 medical and health sciences 0302 clinical medicine medicine GNAS complex locus biology.protein Endocrine system Polyostotic fibrous dysplasia business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Indian Journal of Child Health. :649-651 |
| ISSN: | 2349-6126 2349-6118 |
| DOI: | 10.32677/ijch.2017.v04.i04.047 |
| Popis: | The McCune-Albright syndrome (MAS) is a sporadic rare disease characterized by a triad of physical signs: Cafe-au lait spots, polyostotic fibrous dysplasia, and autonomous endocrine hyperfunction. Based on the studies, it can be concluded that this syndrome is caused by mutations that happen in the gene: GNAS1. A small number, but not all, of the patient’s cells contain this faulty gene (mosaicism). MAS is predominantly observed in girls and is rarely reported in males. We report a 5-year-old boy with cafe-au-lait spots, polyostotic fibrous dysplasia, and without any endocrine dysfunction. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|