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Prenatal sonographic diagnosis of Harlequin ichthyosis
Pedro Brandão1, Sandra Seco2, Teresa Loureiro2
1Department of Obstetrics and Gynaecology, Centro Hospitalar Tâmega e Sousa, Penafiel, Portugal.
Abstract:
Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features.
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