| Title | [The Levy-Hollister syndrome: a syndrome of dysplasias with ENT-manifestations] | | Author(s) | Fierek O, Laskawi R, Bönnemann C, Hanefeld F | | Institution | Klinik und Poliklinik für Hals-Nasen-Ohrenkrankheiten, Universität Göttingen. Fierek.Aguirre@t-online.de | | Source | HNO 2003 Aug; 51(8):654-7. | | MeSH | Abnormalities, Multiple
Child, Preschool
Chromosome Aberrations
Diagnostic Imaging
Ear, External
Ear, Inner
English Abstract
Fingers
Genes, Dominant
Hearing Loss, Sensorineural
Humans
Lacrimal Apparatus
Male
Phenotype
Salivary Glands
Syndactyly
Syndrome
Xerostomia
| | 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. | | Language | ger | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 12942181 |
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