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

K. M. Girisha, H. K. Ganesh, Lakshmi Rao, P. S. Srilatha

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)759-763
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number3
DOIs
Publication statusPublished - 03-2010

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Essential Osteolysis
Hypopigmentation
Hypercalcemia
Skull
Skin
Growth

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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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.",
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