Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

Dorothy K. Grange, Steven M. Lorch, Patricia L. Cole, Gairtam K. Singh

Research output: Contribution to journalReview articlepeer-review

42 Scopus citations

Abstract

Cantu syndrome, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with hypertrichosis, characteristic facial features, skeletal abnormalities, cardiomegaly, and occasional pericardial effusions. Although autosomal recessive inheritance was originally proposed, a man with three affected children has been reported, making autosomal dominant inheritance likely. We report on a woman and her two daughters with Cantu syndrome, further confirming dominant inheritance. All three of our patients have cardiac involvement, and symptomatic pericardial effusions requiring surgical intervention occurred in the mother and one of her daughters. Chromosome microarray analysis was normal in one of the girls. The etiology of the cardiomegaly and pericardial effusions in Cantu syndrome is unknown. We review all previously reported cases of Cantu syndrome and the associated cardiac manifestations.

Original languageEnglish
Pages (from-to)1673-1680
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number15
DOIs
StatePublished - Aug 1 2006

Keywords

  • Autosomal dominant
  • Cantu syndrome
  • Cardiomegaly
  • Hypertrichosis
  • Osteodysplasia
  • Pericardial effusion
  • Pericardiectomy

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