Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

Abstract excerpt

Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed to by the lack of a definitive molecular test and the clinical variability of published case reports. A specific clinical phenotype has been delineated in a homogeneous cohort of Finnish Cohen syndrome patients, but...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood disorders and treatments
• Share to Immunodeficiency and Autoimmune Disorders
• Share to Neonatal Health and Biochemistry