title: Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.
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.
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. grange_d@kids.wustl.edu
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.forename: Steven M
authors.initials: SM
authors.lastname: Lorch
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Cole
authors.forename: Gautam K
authors.initials: GK
authors.lastname: Singh
mesh_terms: D000293:Adolescent; D000328:Adult; D006332:Cardiomegaly / Q000150:complications / Q000235:genetics*; D002648:Child; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000150:complications / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D010490:Pericardial Effusion / Q000150:complications; D013577:Syndrome