title: [The Levy-Hollister syndrome: a syndrome of dysplasias with ENT-manifestations].
abstract: The Levy-Hollister syndrome is characterized by a highly variable expression of dysplasia in different organ systems. Autosomal-dominant inheritance is recognised, but most cases are sporadic. In the field of otorhinolaryngology, xerostomia can be found due to aplasia of the major salivary glands, as well as congenital sensorineural, conductive or combined hearing loss and dysplasia of the auricles, mostly appearing as cup-shaped ears. Here we report on a 2-year-old boy with severe xerostomia. The disease was found to be caused by bilateral aplasia of the parotid and submandibular glands. There were also slight dysplasias of both auricles and a bilateral inner ear malformation as the origin of sensorineural hearing loss. Due to its highly variable expression, Levy-Hollister syndrome is often difficult to distinguish from other diseases and syndromes, so that the cooperation of different departments is necessary for an accurate diagnosis. Because of its dominant inheritance, a genetic consultation should be recommended to the patient. Auricular dysplasia and conductive hearing loss can possibly be treated surgically.
authors.affiliation: Klinik und Poliklinik für Hals-Nasen-Ohrenkrankheiten, Universität Göttingen. Fierek.Aguirre@t-online.de
authors.forename: O
authors.initials: O
authors.lastname: Fierek
authors.forename: R
authors.initials: R
authors.lastname: Laskawi
authors.forename: C
authors.initials: C
authors.lastname: Bönnemann
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003952:Diagnostic Imaging; D004431:Ear, External / Q000002:abnormalities*; D007758:Ear, Inner / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D012469:Salivary Glands / Q000002:abnormalities*; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014987:Xerostomia / Q000175:diagnosis / Q000235:genetics*