May thrombosis be a cause of congenital extremity absence?

GENC G., Atay N., KEPENEKLI E., YARALI N.

INDIAN JOURNAL OF PEDIATRICS, cilt.74, sa.5, ss.497-499, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 74 Sayı: 5
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s12098-007-0086-y
  • Dergi Adı: INDIAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.497-499
  • Anahtar Kelimeler: thrombophily, mutation, agenesis, FACTOR-V-LEIDEN, PREVALENCE, VARIANT
  • Akdeniz Üniversitesi Adresli: Hayır

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.