May thrombosis be a cause of congenital extremity absence?


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

INDIAN JOURNAL OF PEDIATRICS, cilt.74, ss.497-499, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 74 Konu: 5
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s12098-007-0086-y
  • Dergi Adı: INDIAN JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.497-499

Özet

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.