Grebe syndrome with bilateral fibular hemimelia and thumb duplication

Skeletal Radiol. 2002 Mar;31(3):183-7. doi: 10.1007/s00256-001-0461-0. Epub 2002 Jan 23.

Abstract

Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Dwarfism / diagnostic imaging*
  • Ectromelia / diagnostic imaging*
  • Humans
  • Infant, Newborn
  • Male
  • Radiography
  • Syndrome
  • Thumb / abnormalities*