The Börjeson-Forssman-Lehmann syndrome

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.