| Clinical Characteristics of Williams Syndrome |
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Choong Ho Shin, Ho Sung Kim, Sei Won Yang, Jung Yun Choi |
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Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea |
| Williams 증후군의 임상 양상 |
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신충호, 김호성, 양세원, 최정연 |
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서울대학교 의과대학 소아과학교실 |
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| Abstract |
Purpose
: Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization.
Methods
: The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in situ hybridization(FISH) using the bacterial artificial chromosome clone 244H3, which has the genomic DNA sequence of elastin, as a probe. The neonatal history, facial features, associated anomaly including heart disease, neurological and behavioral characteristics were reviewed.
Results
: During the first year, infants with WS showed irritability(83%), vomiting, failure to thrive(58%), and feeding problems(50%). Inguinal and umbilical hernias were common(67%). The associated cardiac anomalies were supravalvular aortic stenosis(83%), most commonly and peripheral pulmonary stenosis(25%) and coarctatin of aorta(8%). The facial findings were periorbital swelling(100%), full and drooping cheek, thick lips, open wide mouth, full nasal tip(83%). Abnormal facial appearance became more striking during childhood and then more coarse by adolescence. Walking alone occurred at an average age of 24 months. Average I.Q. of about 62, with a range from 46 to 75(62¡¾12) was recorded. The perceptual, especially visuospatial and motor functions were more impaired than verbal performance. Distractibility, poor concentration and talkativeness were very common. Aggressive behaviour was less common.
Conclusion
: We conclude that molecular genetic analysis of 22q11 should be considered in patients with 1) supravalvular aortic stenosis or peripheral pulmonry stenosis, and 2) facial dysmorpholgy and 3) mental retardation with a friendly, outgoing personality, and 4) miserable infantile life with feeding problems such as vomiting and colic. |
| Key Words:
Williams syndrome, Supravalvular aotic stenosis, Mental retardation |
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