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Cardio‐facio‐cutaneous syndrome: a case report
Author(s) -
Ribeiro de Castro Maria Cristina,
De Aquino Adriana Moura,
Camilo Carlos,
Maceira Juan Piñeiro,
RamoseSilva Marcia
Publication year - 2002
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1046/j.1365-4362.2002.01631_2.x
Subject(s) - medicine , noonan syndrome , dermatology , genetic disorder , dyskeratosis , skin lesion , congenital disease , ichthyosis , pathology , disease , hyperkeratosis , surgery
Cardio‐facio‐cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease. It may be confused with Noonan's syndrome, which has a familial pattern and does not present hyperkeratotic skin lesions and abnormal hair, and there are few cases reported in the literature. We describe the first case of typical cardio‐facio‐cutaneous syndrome observed in Brazil.