May thrombosis be a cause of congenital extremity absence?
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2007-05-29
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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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Genc G, Atay NE, Kepenekli E, Yarali N. May thrombosis be a cause of congenital extremity absence? Indian Journal of Pediatrics. 2007 May; 74(5): 497-9