syndrome de laurence moon bardet biedl: Apropos de 2 cas familiaux

ABSTRACT

Laurence Moon Bardet Biedl syndrome is an hereditary, rare and serious disease characterized by retinitis pigmentosa [R.P.] associated to systemic manifestations. The authors report two cases from the same family [a girl and her brother] suffering from such syndrome. Consanguinity was found among parents. The girl, 13 old year, was bilateral legally blind. On the other way, two first cousins were affected by such syndrome. In our study, this syndrome had an autosomal recessive mode of inheritence. The importance of an early diagnosis and prevention is discussed