Clinical characteristics analysis in WBS Tzu Chi Med J 2004  16  No. 1 ! NT Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study Chiou-Nan Shiue, Yen-Yin Chou 1 , Louise Chuang 2 , Wen-Hui Tsai 3 , Shang-Chun Tsai 1 , Jing-Ming Wu 1 , Pao-Ling Kuo 2 , Shio-Jean Lin 1 Department of Pediatrics, Buddhist Dalin Tzu Chi General Hospital, Chiayi, Taiwan; Departments of Pediatrics 1 , Gynecology and Obstetrics 2 , National Cheng Kung University Hospital, Tainan, Taiwan; Departments of Pediatrics 3 , Chi Mei Foundation Medical Center, Tainan, Taiwan ABSTRACT Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region en- compasses about 1.5~2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We at- tempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76%) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29%) had the deletion as did 5 in 6 in group 2 (83.33%) and 5 in 5 (100%) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68% (17/25) had dysmorphic features, 56% (14/25) had mental retardation, 40% (10/25) had a gregarious personality, 28% (7/25) had dental abnormalities in, 4% (1/25) had strabismus, 4% (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardio- vascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS. (Tzu Chi Med J 2004; 16:17-23) Key words: Williams-Beuren syndrome, elastin gene, fluorescence in situ hybridization Received: June 25, 2003, Revised: July 18, 2003, Accepted: September 15, 2003 Address reprint requests and correspondence to: Dr. Shio-Jean Lin, Department of Pediatrics, National Cheng Kung University Hospital, 138, Sheng Li Road, Tainan, Taiwan ORIGINAL ARTICLE INTRODUCTION Williams-Beuren syndrome (WBS; MIM 194050) is a genetic disorder, first described independently by Dr. J. C. P. Williams in 1961 and then by Dr. A. J. Beuren in 1962 [1]. Its prevalence is reported to be approxi- mately 1 in 20,000 live births. Most cases are sporadic, although a few cases with familial inheritance have been reported [2]. WBS is characterized by a number of developmen- tal and physical abnormalities, including a distinctive facial appearance, psychomotor retardation, a loquacious personality, genitourinary manifestations, supravalvular aortic stenosis (SVAS) with or without pulmonary steno- sis (PS), hyperacusis, and occasionally infantile hyper- calcemia [3]. Clinical diagnosis of this disease might be easy in classical cases, but some difficulty may be encountered, especially in young patients. The clinical manifestations of WBS vary and change with age [4].