{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,5]],"date-time":"2023-12-05T00:35:00Z","timestamp":1701736500194},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ultraschall Med"],"published-print":{"date-parts":[[2023,12]]},"DOI":"10.1055\/a-2180-6906","type":"journal-article","created":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T23:49:48Z","timestamp":1701733788000},"page":"576-579","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography"],"prefix":"10.1055","volume":"44","author":[{"given":"E.","family":"Merz","sequence":"additional","affiliation":[{"name":"Centre for Ultrasound and Prenatal Medicine, Frankfurt\/Main \u2013 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Pashaj","sequence":"additional","affiliation":[{"name":"Centre for Ultrasound and Prenatal Medicine, Frankfurt\/Main \u2013 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,12,4]]},"reference":[{"issue":"05","key":"ref3","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1111\/pde.12383","article-title":"Recent advances in the genetics and management of harlequin ichthyosis","volume":"31","author":"H Ahmed","year":"2014","journal-title":"Pediatr Dermatol"},{"key":"ref4","first-page":"458","article-title":"A case of intrauterine ichthyosis","volume":"13","author":"R W Smith","year":"1880","journal-title":"Am. J. of Obstetrics and Gynecology"},{"issue":"06","key":"ref5","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1001\/archdermatol.2011.9","article-title":"Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases","volume":"147","author":"S Rajpopat","year":"2011","journal-title":"Arch Dermatol"},{"issue":"11","key":"ref6","doi-asserted-by":"publisher","first-page":"QD04","DOI":"10.7860\/JCDR\/2015\/15250.6705","article-title":"Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis","volume":"9","author":"S Rathore","year":"2015","journal-title":"J Clin Diagn Res"},{"issue":"05","key":"ref7","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1086\/429844","article-title":"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis","volume":"76","author":"D P Kelsell","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/s0140-6736(83)91780-4","article-title":"Prenatal diagnosis of Harlequin fetus","volume":"1","author":"C Blanchet-Bardon","year":"1983","journal-title":"Lancet"},{"issue":"07","key":"ref9","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1002\/pd.1970110707","article-title":"Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases","volume":"11","author":"K Suzumori","year":"1991","journal-title":"Prenat Diagn"},{"issue":"01","key":"ref10","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1046\/j.1469-0705.2002.00708.x","article-title":"Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach","volume":"20","author":"A Bongain","year":"2002","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"07","key":"ref11","doi-asserted-by":"publisher","first-page":"737","DOI":"10.7863\/jum.2003.22.7.737","article-title":"Three-dimensional sonographic findings in congenital (harlequin) ichthyosis","volume":"22","author":"N Vohra","year":"2003","journal-title":"J Ultrasound Med"},{"issue":"03","key":"ref12","first-page":"283","article-title":"Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography","volume":"38","author":"A Y Basgul","year":"2011","journal-title":"Clin Exp Obstet Gynecol"},{"issue":"02","key":"ref13","doi-asserted-by":"publisher","first-page":"183","DOI":"10.21037\/atm-20-8223","article-title":"Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report","volume":"9","author":"X J Zhou","year":"2021","journal-title":"Ann Transl Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.abd.2022.09.013","article-title":"Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review","author":"Z Liu","year":"2023","journal-title":"An Bras Dermatol"},{"issue":"03","key":"ref15","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1002\/humu.23695","article-title":"Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families","volume":"40","author":"L Youssefian","year":"2019","journal-title":"Hum Mutat"},{"issue":"01","key":"ref16","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1111\/bjd.14807","article-title":"Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing","volume":"176","author":"R Saito","year":"2017","journal-title":"Br J Dermatol"},{"issue":"03","key":"ref17","doi-asserted-by":"publisher","first-page":"241","DOI":"10.7863\/jum.1995.14.3.241","article-title":"Prenatal diagnosis of severe congenital ichthyosis (harlequin fetus) by ultrasonography","volume":"14","author":"W J Watson","year":"1995","journal-title":"J Ultrasound Med"},{"issue":"02","key":"ref18","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/BF03194622","article-title":"Harlequin ichthyosis -difficulties in prenatal diagnosis","volume":"47","author":"K Zapa\u0142owicz","year":"2006","journal-title":"J Appl Genet"},{"issue":"05","key":"ref19","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1046\/j.1469-0705.1997.09050350.x","article-title":"Intra-amniotic debris identified at ultrasound scanning: a feature of congenital ichthyosis","volume":"9","author":"I Montague","year":"1997","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"02","key":"ref20","doi-asserted-by":"crossref","first-page":"158","DOI":"10.5005\/jp-journals-10009-1971","article-title":"Three-dimensional\/Four-dimensional Ultrasound: The Key for the Precise Assessment of Fetal Malformations","volume":"17","author":"E Merz","year":"2023","journal-title":"Donald School J Ultrasound Obstet Gynecol"},{"issue":"11","key":"ref21","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1002\/pd.1970141122","article-title":"On the inheritance of Harlequin ichthyosis","volume":"14","author":"A Bottani","year":"1994","journal-title":"Prenat Diagn"},{"issue":"02","key":"ref22","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.1111\/pde.12263","article-title":"Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation","volume":"31","author":"A Koochek","year":"2014","journal-title":"Pediatr Dermatol"}],"container-title":["Ultraschall in der Medizin - European Journal of Ultrasound"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2180-6906.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T23:49:51Z","timestamp":1701733791000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2180-6906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":20,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2023,12,4]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2180-6906","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0172-4614","1438-8782"],"issn-type":[{"value":"0172-4614","type":"print"},{"value":"1438-8782","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12]]}}}