May thrombosis be a cause of congenital extremity absence?

Genc G., Atay N. E., Kepenekli E., Yarali N.

Indian Journal of Pediatrics, vol.74, no.5, pp.497-499, 2007 (SCI-Expanded) identifier identifier

  • 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: Agenesis, Mutation, Thrombophily
  • Ankara Yıldırım Beyazıt 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. © 2007 Dr. K C Chaudhuri Foundation.