Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmor...Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.展开更多
Dear Editor,I am Dr.Soraya Mediero,from Department of Ophthalmology of La Paz University Hospital,Madrid,Spain.I write to present a case report of keratoconus associated with Williams-Beuren syndrome（WBS）.
Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have s...Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.展开更多
Williams-Beuren syndrome （WBS） is a hereditary disease involving multiple systems due to microdeletion of chromosome 7q11.23. The deleted region in most patients is approximately 1.55 Mb, including 26-28 genes. The ...Williams-Beuren syndrome （WBS） is a hereditary disease involving multiple systems due to microdeletion of chromosome 7q11.23. The deleted region in most patients is approximately 1.55 Mb, including 26-28 genes. The incidence of WBS in liveborn children is roughly 1/7 500-1/25 000.1展开更多
文摘Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.
文摘Dear Editor,I am Dr.Soraya Mediero,from Department of Ophthalmology of La Paz University Hospital,Madrid,Spain.I write to present a case report of keratoconus associated with Williams-Beuren syndrome（WBS）.
文摘Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.
文摘Williams-Beuren syndrome （WBS） is a hereditary disease involving multiple systems due to microdeletion of chromosome 7q11.23. The deleted region in most patients is approximately 1.55 Mb, including 26-28 genes. The incidence of WBS in liveborn children is roughly 1/7 500-1/25 000.1
