Wiedemann-Rautenstrauch syndrome: first Indian case
| Autor: | Vikram Datta, Arvind Saili, Ajay Kumar, Madhulika Kabra, Neeraja Gupta, Meenu Pandey |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Aged appearance Progeria Pediatrics Fetal Growth Retardation business.industry Birth weight Genetic disorder Infant Newborn India medicine.disease Neonatal Progeroid Syndrome Endocrinology Infant Extremely Low Birth Weight Internal medicine Pediatrics Perinatology and Child Health medicine Humans Wiedemann-Rautenstrauch syndrome business |
| Zdroj: | Indian journal of pediatrics. 78(12) |
| ISSN: | 0973-7693 |
| Popis: | Wiedemann–Rautenstrauch syndrome, also known as neonatal progeroid syndrome (NPS), is an extremely rare genetic disorder characterised by an aged appearance at birth. About thirty cases have been reported in the literature. The authors report first Indian baby with Wiedemann–Rautenstrauch syndrome with the lowest birth weight documented in such a patient, who is still surviving at 24 months. This ethnicity has not been reported previously in literature. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink