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

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aortic Stenosis, Subvalvular / genetics*
  • Bone Diseases, Developmental / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Corneal Opacity / genetics*
  • Face
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Syndrome