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DEMONSTRATION OF A CASE WITH LAURENCE-MOON-BARDET-BIEDL SYNDROME
Journal article   Peer reviewed

DEMONSTRATION OF A CASE WITH LAURENCE-MOON-BARDET-BIEDL SYNDROME

R Osusky, A H Alsaadi and H Farpour
Klinische Monatsblätter für Augenheilkunde, Vol.198(5), pp.445-446
01/05/1991
PMID: 1886381

Abstract

Life Sciences & Biomedicine Ophthalmology Science & Technology
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.

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