Endocrine Abstracts

IntroductionJacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long arm of chromosome 11. The estimated prevalence of Jacobsen syndrome is 1/100.000 births. It is most commonly presented with psychomotor and physical growth retardation, dysmorphic facial features, thrombocytopenia or pancytopenia. It is also characterized by congenital heart defects, and kidney, gastrointestinal tract, genitalia, CNS and skeletal deformit...