May thrombosis be a cause of congenital extremity absence?
INDIAN JOURNAL OF PEDIATRICS, vol.74, no.5, pp.497-499, 2007 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 74 Issue: 5
- Publication Date: 2007
- Doi Number: 10.1007/s12098-007-0086-y
- Journal Name: INDIAN JOURNAL OF PEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.497-499
- Keywords: thrombophily, mutation, agenesis, FACTOR-V-LEIDEN, PREVALENCE, VARIANT
- Akdeniz University Affiliated: No
Abstract
Congenital extremity anomalies have many modes of presentation. Interruption of vascular supply with thrombophily is a rare cause of congenital extremity absence. Here it is presented a 7 mth old male with absence of the left lower extremity. Laboratory tests revealed Factor V Leiden and Prothrombin G20210A heterozygote mutation and that was as the cause of extremity absence. At the patients with congenital extremity absences, it is not imprudent to explore a possible thrombophilic mutation along with other known etiologic factors.