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elfin facies syndrome meaning

MeaningMobile
  • [Medicine]
    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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What is the meaning of elfin facies syndrome and how to define elfin facies syndrome in English? elfin facies syndrome meaning, what does elfin facies syndrome mean in a sentence? elfin facies syndrome meaningelfin facies syndrome definition, translation, pronunciation, synonyms and example sentences are provided by eng.ichacha.net.