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Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome?

作者信息

Fryns J P, Van den Berghe H

出版信息

Eur J Pediatr. 1979 Jun 28;131(3):179-83. doi: 10.1007/BF00538941.

Abstract

Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.

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