Rare Coagulation Factor Deficiencies Associated with Congenital Abnormalities
Baris Malbora1*, Murat Derbent2, and Namik Ozbek1
1Department of Pediatric Hematology, Baskent University Hospital, Ankara, Turkey
2Pediatric Genetics, Baskent University Hospital, Ankara, Turkey
- *Corresponding Author:
- Baris Malbora
Department of Pediatric Hematology
Baskent University Hospital, Ankara, Turkey
E-mail: [email protected]
Received Date: January 08, 2017; Accepted Date: February 20, 2017; Published Date: February 25, 2017
Citation: Malbora B, Derbent M, Ozbek N (2017) Rare Coagulation Factor Deficiencies Associated with Congenital Abnormalities. J Clin Case Rep 7:932. doi: 10.4172/2165-7920.1000932
Copyright: © 2017 Malbora B, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Among bleeding disorders, hemophilia A, hemophilia B and von Willebrand diseases are the most commonly occurring, whereas deficiencies of other coagulation factors are rare worldwide. Unlike hemophilias, which are X-chromosome linked disorders, the inheritance pattern of the rare coagulation factor deficiencies is generally autosomal recessive. In literature, association of these factor deficiencies and congenital abnormalities are especially rare. In this study, we present our cases having both rare factor deficiencies and congenital abnormalities, including Cenani-Lenz syndrome and Duane retraction syndrome.