title: [Case report of Laurence-Moon-Bardet-Biedl syndrome].
abstract: We report a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents.
authors.affiliation: Universitätsaugenklinik Basel.
authors.forename: R
authors.initials: R
authors.lastname: Osusky
authors.forename: A H
authors.initials: AH
authors.lastname: Alsaadi
authors.forename: H
authors.initials: H
authors.lastname: Farpour
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
vernacular_title: Falldemonstration vom Laurence-Moon-Bardet-Biedl-Syndrom.