Vohra Nidhi, Rochelson Burton, Smith-Levitin Michelle
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, North Shore University Hospital, Manhasset, New York 11030, USA.
J Ultrasound Med. 2003 Jul;22(7):737-9. doi: 10.7863/jum.2003.22.7.737.
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.
丑角样鱼鳞病是一种致死性常染色体隐性疾病，其特征为皮肤角质层极度增厚、耳朵扁平以及弥漫性板层状鳞屑。已有产前超声诊断的相关报道，其表现为持续张口、羊水回声增强以及四肢固定性屈曲。在此，我们描述一例丑角样鱼鳞病病例，该病例的综合征特征在三维（3D）和四维（4D）实时超声检查中显示得最为清晰。
