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Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses.

ABSTRACT: Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.

SUBMITTER: Prajapat M

PROVIDER: S-EPMC5038102 | biostudies-literature | 2016 Sep-Oct

REPOSITORIES: biostudies-literature

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Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses.

Prajapat Mahesh M Kothiwala Sunil K SK Sharma Mohit M Kuldeep C M CM

Indian dermatology online journal 20160901 5

Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect. ...[more]

PMID: 27730037

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