Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

Unknown Dysmorphic Syndromes and Developmental Delay in Saudi Arabia

Forty-four Saudi Arabian patients with unknown dysmorphic syndromes were studied with respect to their level of cognitive delay. The relationship between such delay and particular patterns of dysmorphic features, as well as various demographic and historical data, were also investigated. Prognostication and genetic counseling are difficult for this group because little is known about morbidity or other factors. These concerns, along with broader issues, stimulated this study. Significant associations were found between level of cognitive function and consanguinity, abnormal motor and language milestones, and abnormal electroencephalograms. No significant relationship was found between various dysmorphic feature clusters and measured cognition. Concerns were expressed about demands on family and community for these children, as well as possible larger issues in this heavily consanguineous society. Further research, including epidemiologic studies, was recommended. (J Child Neurol 1992;7(Suppl):S64-S68.)

Cytogenetic analysis of children with suspected genetic disorder

Objectives: To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder Materials and methods: Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformations and ambiguous genitalia with age between 0-15 years. Cytogenetic analysis was carried using standard peripheral blood lymphocyte culture method and G-banding technique in Cytogenetic laboratory of Department of Anatomy, B.P. Koirala Institute of Health Sciences. Results: Chromosomal disorders were identified in 33.34% (10) of children. The most common chromosomal abnormality was Down syndrome (26.67%) followed by Turner syndrome (6.67%). Conclusion: The cytogenetic analysis of children with suspected chromosomal aberration is important to uncover the contribution of chromosomal disorder in genesis of dysmorphisms, mental retardation, short stature, sexual ambiguity and congenital malformation in children and prevent further potentially unpleasant investigation being undertaken. Key words: Chromosome, suspected genetic disorder, dysmorphic feature, mental retardation, short stature, congenital malformations, ambiguous genitalia doi: 10.3126/kumj.v7i1.1763 Kathmandu University Medical Journal (2009), Vol. 7, No. 1, Issue 25, 40-43