Progressive extreme heterotopic calcification

Margherita Silengo, Claudio Defilippi, Elga Belligni, Elisa Biamino, Elisabetta Flex, Alfredo Brusco, Giovanni Battista Ferrero, Marco Tartaglia, Raoul C. Hennekam

Research output: Contribution to journalArticlepeer-review


The formation of ectopic calcifications in soft tissues can occur either sporadically or as a genetically determined condition, and is seen only infrequently. We report on a girl in whom widespread, rapidly progressive ectopic calcifications were detected shortly after birth. Calcifications became present around all joints, tendons and ligaments, but did not involve internal organs and skin, and eventually caused almost complete immobility of the child at 2 years. There were no other health problems and cognitive development was normal. We compare the manifestations in the child to the characteristics of known entities causing ectopic calcifications and conclude the child differs to each. Laboratory evaluation failed to identify autoimmune phenomena as well as calcium metabolism or other biochemical abnormalities; molecular studies did not identify occurrence of mutations in disease genes known to be involved in ectopic calcifications. We conclude the manifestations in the child represent an unreported entity of hitherto unknown etiology.

Original languageEnglish
Pages (from-to)1706-1713
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
Publication statusPublished - Jul 2013


  • Congenital
  • Ectopic calcification
  • Fibrodysplasia ossificans progressiva

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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