title: Three-dimensional sonographic findings in congenital (harlequin) ichthyosis.
abstract: Harlequin ichthyosis is a lethal autosomal recessive disorder characterized by an extremely thickened keratin layer of skin, flattened ears, and diffuse platelike scales. Prenatal sonographic diagnosis has been described, with findings of a persistently open mouth, echogenic amniotic fluid, and fixed flexion of the extremities. Here we describe a case of harlequin ichthyosis in which the syndromic features were shown best on three-dimensional (3D) and four-dimensional (4D) real-time sonography.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, North Shore University Hospital, Manhasset, New York 11030, USA. nvohra@nshs.edu
authors.forename: Nidhi
authors.initials: N
authors.lastname: Vohra
authors.forename: Burton
authors.initials: B
authors.lastname: Rochelson
authors.forename: Michelle
authors.initials: M
authors.lastname: Smith-Levitin
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal