[Case report of Laurence-Moon-Bardet-Biedl syndrome].
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.
Osusky
R
R
Universitätsaugenklinik Basel.
Alsaadi
A H
AH
Farpour
H
H
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
Falldemonstration vom Laurence-Moon-Bardet-Biedl-Syndrom.