Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Am J Med Genet A. 2010 Mar;152A(3):759-63. doi: 10.1002/ajmg.a.33309.

Abstract

We report on a 16-month-old girl with multiple swellings on her skull due to massive osteolysis, growth retardation, facial anomalies, and wrinkly skin with mosaic hypopigmentation. She also had severe hypercalcemia, which gradually returned to normal levels. The condition likely represents Gorham syndrome with systemic manifestations.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Developmental Disabilities / genetics*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Hypopigmentation / genetics
  • Infant
  • Osteolysis, Essential / genetics*
  • Osteolysis, Essential / pathology*
  • Skin Abnormalities / genetics
  • Skin Abnormalities / pathology
  • Skull / pathology*
  • Syndrome