Sabiha Güngör Kobat

Potocki–Shaffer syndrome associated with Brown syndrome: expansion of the ocular phenotype in a child with an 11p11.2–p11.12 deletion

Purpose To describe the first reported case of Potocki–Shaffer syndrome (PSS) associated with Brown syndrome and to expand the ocular phenotype of this rare contiguous gene deletion syndrome.Methods Retrospective case report with multidisciplinary ophthalmologic, neurologic, radi...