Cantu syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.
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ABSTRACT:
SUBMITTER: Mattiucci A
PROVIDER: S-EPMC9979969 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
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Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.
Mattiucci Alessandra A Girolomoni Giampiero G Cassina Matteo M Zoller Thomas T Antoniazzi Franco F Schena Donatella D
Clinical case reports 20230302 3
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7-year-old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow-up at the age of nine the echocardiogram showed mild left ventri ...[more]
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