A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism

Clin Dysmorphol. 2000 Oct;9(4):273-6. doi: 10.1097/00019605-200009040-00008.

Abstract

Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we present a female patient with asymmetric Larsen syndrome. We hypothesise that the asymmetric distribution of clinical features in our patient is likely caused by post-zygotic somatic cell-line mosaicism of a dominant gene mutation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities*
  • Child
  • Facies
  • Female
  • Foot / diagnostic imaging
  • Hand / diagnostic imaging
  • Humans
  • Joint Dislocations / congenital*
  • Mosaicism*
  • Radiography
  • Syndrome