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

DK Grange, SM Lorch, PL Cole… - American journal of …, 2006 - Wiley Online Library
DK Grange, SM Lorch, PL Cole, GK Singh
American journal of medical genetics Part A, 2006Wiley Online Library
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 …
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. © 2006 Wiley‐Liss, Inc.
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