Genc Gurkan, Atay Nilgun Erkek, Kepenekli Eda, Yarali Nese
Department of Pediatrics, Dr. Sami Ulus Children's Hospital, Ankara, Turkey.
Indian J Pediatr. 2007 May;74(5):497-9. doi: 10.1007/s12098-007-0086-y.
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.
先天性肢体异常有多种表现形式。伴有血栓形成倾向的血管供应中断是先天性肢体缺失的罕见原因。本文介绍了一名7个月大的男性，其左下肢缺失。实验室检查发现存在因子V莱顿突变和凝血酶原G20210A杂合子突变，这就是肢体缺失的原因。对于先天性肢体缺失的患者，探究可能存在的血栓形成倾向突变以及其他已知病因并不轻率。
