Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient

Am J Med Genet. 2000 Aug 14;93(4):335-8. doi: 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5.

Abstract

In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This disorder was later named Lenz-Majewski hyperostotic dwarfism. We describe the reexamination of the original patient at the age of 30 years.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Dwarfism / diagnosis*
  • Female
  • Follow-Up Studies
  • Humans
  • Hyperostosis / diagnosis*
  • Intellectual Disability / diagnosis
  • Syndrome