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.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000311:Adrenal Glands / Q000503:physiopathology; D000328:Adult; D005260:Female; D012739:Gonadal Steroid Hormones / Q000502:physiology; D006801:Humans; D008297:Male; D010375:Pedigree; D010908:Pituitary Hormones, Anterior / Q000378:metabolism; D011247:Pregnancy; D013577:Syndrome; D014430:Twins, Monozygotic
D012739:Gonadal Steroid Hormones; D010908:Pituitary Hormones, Anterior