Prenatal sonographic diagnosis of Harlequin ichthyosis.
Pedro BrandãoSandra SecoTeresa LoureiroCarla RamalhoPublished in: Journal of clinical ultrasound : JCU (2018)
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.