title: Börjeson-Forssman-Lehmann syndrome: further delineation in five cases.
abstract: We have studied five males with Börjeson-Forssman-Lehmann syndrome (BFLS) from two unrelated families. They had a characteristic facial appearance with prominent supraorbital ridges, deep-set eyes, ptosis, and large ears, as well as obesity, severe mental retardation, hypotonia, and hypogonadism. Ophthalmologic, EEG, and skeletal abnormalities were also present. The findings in several presumed or possible heterozygous women were evaluated and suggested a wide range of phenotypic effects varying between apparent normality to mild or moderately evident BFLS manifestations. The observed pattern of occurrence of the BFLS in our two families provides strong support for X-linked inheritance. In clinically normal female relatives at risk for being carriers of BFLS, we have been unsuccessful in identifying a reliable screening test. The condition in our and previously reported patients was contrasted with other malformation syndromes and our findings support the conclusion that BFLS is a distinct and clinically identifiable disorder.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005149:Facial Expression; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome