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Case Reports
, 47 (4), 228-231

Prenatal Sonographic Diagnosis of Harlequin Ichthyosis

Case Reports

Prenatal Sonographic Diagnosis of Harlequin Ichthyosis

Pedro Brandão et al. J Clin Ultrasound.


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.

Keywords: Harlequin type ichthyosis; obstetrics; ultrasonography.

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