title: Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature.
abstract: In 1965, Bjørnstad described 8 patients with pili torti, of whom five also suffered from hearing loss. The combination of these two findings was later coined Bjørnstad's syndrome. Typically, these patients develop hair loss in the first two years of life, while the hearing deficit may become evident in the first three to four years of life. However, considerable differences regarding age of onset and clinical severity have been reported, a pronounced hair shaft abnormality is often associated with severe hearing deficits. In a recent study of a Mexican family with pili torti and deafness, the inheritance was determined to be autosomal recessive, and mapped to the gene locus 2q34-q36. Hypogonadism and mental retardation are associated findings that have been described in patients with Bjørnstad syndrome. In this re-investigation of Bjørnstad's original patients, two additional patients with pili torti and hearing loss are described, and a review of the published cases of Bjørnstad's syndrome is given, as well as a short overview of syndromes and conditions with twisted hairs.
authors.affiliation: Department of Dermatology, Ullevål Hospital, University of Oslo, Norway.
authors.forename: E
authors.initials: E
authors.lastname: Selvaag
mesh_terms: D017668:Age of Onset; D000368:Aged; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome