Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature

Zornitza Stark, Alessandra Pangrazio, George McGillivray, A. Michelle Fink

Research output: Contribution to journalArticle


We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.

Original languageEnglish
Pages (from-to)36-38
Number of pages3
JournalEuropean Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2013



  • Brain anomaly
  • Osteopetrosis
  • Recessive

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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