Presence of multiple anomalies in a male fetus - phenotypical overlap of VACTERL-H association with Fanconi anaemia: a case report
ePoster
Authors: Amrei Welp, University Hospital of Schleswig-Holstein, Campus Luebeck Department of Gynecology & Obstetrics Jann Lennard Scharf, University Hospital of Schleswig-Holstein, Campus Lübeck Michael Gembicki, University Hospital of Schleswig-Holstein, Campus Luebeck Christoph Dracopoulos, University Hospital of Schleswig-Holstein, Campus Luebeck Jan Weichert, University Hospital of Schleswig-Holstein ,
5% of male patients also present multisystemic anomalies like VACTERL or VACTERL-H association when X-linked inherited Fanconi anemia is present. This condition is assosiated with bone marrow failure and can impair the survival and long-term outcome after birth. Based on our findings we conducted a review of current literature tabulating sonographic features and genetic testing related to this complex disorder to enable a more appropriate comprehensive counseling to expectant parents.