New observations in the Laurence-Moon and Bardet-Biedl syndromes

ABSTRACT

Over a period of four years we studied eleven families of probands with features of Laurence-Moon or Bardet-Biedl syndromes. Although previously thought to represent on entity the Laurence-Moon-Bardet-Biedl syndrome, recent Literature [Toledo et al, 1977] suggests their classification into two distinct autosomal recessive syndromes. The Laurence-Moon syndrome [LMS] first described in 1866 and the Bardel-Biedl syndrome [BBS] first described by Bardet [1920] and Biedl [1922]. The main features of BBS are marked obesity, postaxial polydactyly in addition to all the features of the Laurence-Moon syndrome without paraplegia. In the present work we classified the eleven families comprising 17 cases into one sporadic case with Laurence-Moon syndrome and 16 cases in 10 families with the Bardet-Biedl syndrome. This emphasized the rarity of LMS in relation to BBS as was noted before. Orodental anomalies were more obvious in the BBS in the form of high arched palate high caries index microstomia and xerostomia The study confirmed the significantly high whorl pattern in the BBS pateints as previously suggested by Temtamy and Shalash [1975]. Although the present study indicates new differences between BB and LM syndrome more cases need to be studied to confirm our findings: