The Sabinas syndrome

Am J Hum Genet. 1981 Nov;33(6):957-67.

Abstract

We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acids / analysis
  • Copper / analysis
  • Cystine / analysis
  • Female
  • Genes, Recessive*
  • Hair / analysis
  • Hair Diseases / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mexico
  • Microscopy, Electron
  • Nails, Malformed / genetics*
  • Pedigree
  • Syndrome
  • Zinc / analysis

Substances

  • Amino Acids
  • Cystine
  • Copper
  • Zinc