A syndrome of holoprosencephaly, recurrent infections, and monocytosis

Paul T. Jubinsky, Alan L. Shanske, Fiona J. Pixley, Cristina Montagna, Mary K. Short

Research output: Contribution to journalArticlepeer-review


We describe three siblings with holoprosencephaly, recurrent infections, and increased peripheral blood monocytes. These children were born to apparently healthy parents in a family with one unaffected child. Affected individuals had microcephaly, severe developmental delay, failure to thrive, and brachydactyly. The clinical courses were complicated by endocrine dysfunction, multiple respiratory, and skin infections. Laboratory studies showed normal karyotypes, normal lymphocyte function, and a peripheral blood monocytosis with markedly abnormal morphology. Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly.

Original languageEnglish (US)
Pages (from-to)2742-2748
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number24
StatePublished - Dec 15 2006


  • Brain development
  • Glia
  • Immunodeficiency
  • Innate immunity
  • Macrophage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'A syndrome of holoprosencephaly, recurrent infections, and monocytosis'. Together they form a unique fingerprint.

Cite this