The Börjeson‐Forssman‐Lehmann syndrome

Publisher Website
Google Scholar
Abstract
Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson‐Forssman‐Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow‐ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.