Proteus syndrome: report of a case with severe brain impairment and fatal course

J Med Genet. 1990 Jun;27(6):399-402. doi: 10.1136/jmg.27.6.399.

Abstract

A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Brain / abnormalities*
  • Facial Asymmetry / congenital*
  • Gigantism / complications*
  • Humans
  • Infant
  • Male
  • Syndrome