Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Objective and Importance: Bardet-Biedl syndrome (BBS) is a heterogeneous disorder; clinical dissimilarities do exist among patients. Cases of BBS have been reported with hyper- tension, diabetes mellitus and renal disease, while others were reported with hepatic disease. Here, we are reporting 3 newly diagnosed unrelated Bedouin children, evaluated for the pres- ence of an endocrine disorder. Clinical Presentation: Our patients were 2 males and 1 female. These patients are obese with a voracious appetite, postaxial polydactyly and mentally retarded. Pigmentary retinopathy was found in the older chil- dren and hypogenitalism is apparent in the older male child who is also hypertensive. The clinical, endocrinological and imaging evaluation data are compared with previously pub- lished cases. Also, phenotypic variability and genetic heteroge- neity of BBS pleiotropic gene are briefly discussed. Conclu- sion: The results of hormonal studies in our cases showed no endocrinological dysfunction, except for the presence of hypo- gonadism. Although no specific treatment is available, an ear- ly evaluation of BBS cases can be the first step in initiating symptomatic management and preventive measures for the patient and the family.