Ultraschall in der Medizin - European Journal of Ultrasound, Table of Contents Ultraschall Med 2023; 44(06): 576-579DOI: 10.1055/a-2180-6906 Title Page Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography Article in several languages: English | deutsch E. Merz Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main – Germany , S. Pashaj Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main – Germany› Author AffiliationsRecommend Article Abstract Buy ArticleKey words Key wordsHarlekin fetus - prenatal diagnosis - 3D sonography - DNA analysis Full Text References References 1 OMIM (Online Mendelian Inheritance in Man). 2023 https://www.omim.org 2 Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457 3 Ahmed H, OʼToole EA. Recent advances in the genetics and management of harlequin ichthyosis. Pediatr Dermatol 2014; 31 (05) 539-546 4 Smith RW. A case of intrauterine ichthyosis. Am. J. of Obstetrics and Gynecology 1880; 13: 458-461 5 Rajpopat S, Moss C, Mellerio J. et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011; 147 (06) 681-686 6 Rathore S, David LS, Beck MM. et al. Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis. J Clin Diagn Res 2015; 9 (11) QD04-6 7 Kelsell DP, Norgett EE, Unsworth H. et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76 (05) 794-803 8 Blanchet-Bardon C, Dumez Y, Labbé F. et al. Prenatal diagnosis of Harlequin fetus. Lancet 1983; 1: 132 9 Suzumori K, Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn 1991; 11 (07) 451-457 10 Bongain A, Benoit B, Ejnes L. et al. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol 2002; 20 (01) 82-85 11 Vohra N, Rochelson B, Smith-Levitin M. Three-dimensional sonographic findings in congenital (harlequin) ichthyosis. J Ultrasound Med 2003; 22 (07) 737-739 12 Basgul AY, Kavak ZN, Guducu N. et al. Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography. Clin Exp Obstet Gynecol 2011; 38 (03) 283-285 13 Zhou XJ, Lin YJ, Chen XW. et al. Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report. Ann Transl Med 2021; 9 (02) 183 14 Liu Z, Jing C. Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review. An Bras Dermatol 2023; 15 Youssefian L, Vahidnezhad H, Saeidian AH. et al. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat 2019; 40 (03) 288-298 16 Saito R, Boyce A, Hsu CK. et al. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing. Br J Dermatol 2017; 176 (01) 249-251 17 Watson WJ, Mabee LM Jr. Prenatal diagnosis of severe congenital ichthyosis (harlequin fetus) by ultrasonography. J Ultrasound Med 1995; 14 (03) 241-243 18 Zapałowicz K, Wygledowska G, Roszkowski T. et al. Harlequin ichthyosis -difficulties in prenatal diagnosis. J Appl Genet 2006; 47 (02) 195-197 19 Montague I, Fox R, Mann R. Intra-amniotic debris identified at ultrasound scanning: a feature of congenital ichthyosis. Ultrasound Obstet Gynecol 1997; 9 (05) 350-351 20 Merz E, Pashaj S. Three-dimensional/Four-dimensional Ultrasound: The Key for the Precise Assessment of Fetal Malformations. Donald School J Ultrasound Obstet Gynecol 2023; 17 (02) 158-164 21 Bottani A. On the inheritance of Harlequin ichthyosis. Prenat Diagn 1994; 14 (11) 1099 22 Koochek A, Choate KA, Milstone LM. Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. Pediatr Dermatol 2014; 31 (02) e63-e64
