title: May thrombosis be a cause of congenital extremity absence?
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.
authors.affiliation: Department of Pediatrics, Dr. Sami Ulus Children's Hospital, Ankara, Turkey. gencdoc@yahoo.com
authors.forename: Gurkan
authors.initials: G
authors.lastname: Genc
authors.forename: Nilgun Erkek
authors.initials: NE
authors.lastname: Atay
authors.forename: Eda
authors.initials: E
authors.lastname: Kepenekli
authors.forename: Nese
authors.initials: N
authors.lastname: Yarali
mesh_terms: D004200:Diseases in Twins; D005165:Factor V / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000209:etiology; D006801:Humans; D007223:Infant; D007866:Leg / Q000002:abnormalities*; D008297:Male; D017354:Point Mutation; D013927:Thrombosis / Q000150:complications* / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V