| 单词 | Syndrome,Elfin Facies |
| 释义 | Syndrome,Elfin Facies《英文msh词典》Syndrome,Elfin Facies [入口词] Syndrome,Elfin Facies [主题词] Williams Syndrome [英文释义] A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23,encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS,SUPRAVALVULAR),MENTAL RETARDATION,elfin facies,impaired visuospatial constructive abilities,and transient hypercalcemia in infancy. The condition affects both sexes,with onset at birth or in early infancy. |
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