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Updated: Jul 14, 2026

Point-Of-Care Ultrasound Screening for Proximal Lower Extremity Deep Venous Thrombosis
Published on: February 10, 2023
May thrombosis be a cause of congenital extremity absence?
Gurkan Genc1, Nilgun Erkek Atay, Eda Kepenekli
1Department of Pediatrics, Dr. Sami Ulus Children's Hospital, Ankara, Turkey. gencdoc@yahoo.com
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.
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