{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T08:48:44Z","timestamp":1791967724767,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Congenital ichthyoses are inherited disorders in which the outer layer of the skin forms abnormally. Prenatal ultrasound can show a recognizable pattern in some affected fetuses, but most published evidence comes from case reports and small case series. This narrative review summarizes sonographic findings that have been reported, when they became visible, and how they should be interpreted in clinical practice. The strongest imaging literature concerns harlequin ichthyosis. Reported findings include ectropion, eclabium or persistent mouth opening, a flattened nasal contour, fixed flexion of the hands or feet, an abnormal skin surface, echogenic amniotic fluid, and polyhydramnios. However, these findings are not specific and may appear only in the second half of pregnancy. Therefore, an earlier normal scan does not exclude disease. Evidence for other congenital ichthyoses is more limited. A genotype\u2010confirmed TGM1\u2010related case showed facial findings similar to harlequin ichthyosis, whereas ichthyosis prematurity syndrome has a late\u2010gestation pattern described in a small series. By contrast, X\u2010linked ichthyosis is more often suspected from maternal serum or genetic findings than from a structural fetal ultrasound pattern. Three\u2010dimensional ultrasound can improve display of surface anatomy when two\u2010dimensional findings are suspicious, but its diagnostic accuracy has not been established. Fetal magnetic resonance imaging has only an adjunctive role. Overall, ultrasound is best used to recognize a phenotype, guide further assessment, and prompt genetic testing rather than to provide a stand\u2010alone molecular diagnosis.<\/jats:p>","DOI":"10.1002\/jcu.70410","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T08:06:42Z","timestamp":1791965202000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Review of Ultrasound Diagnosis of Ichthyosis in Fetuses"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3882-9378","authenticated-orcid":false,"given":"Min","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Ultrasound Maternity &amp; Child Healthcare Hospital of Longgang District, Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1026-1105","authenticated-orcid":false,"given":"Zhulan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound Maternity &amp; Child Healthcare Hospital of Longgang District, Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,14]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13224\u2010024\u201002012\u20105"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2023.2301468"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140316"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.9014"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20100705.2002.00708.x"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22675"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15506"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102023\u2010256859"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.70139"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijri.IJRI_105_19"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2010.29.2.317"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15909"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abd.2022.09.013"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26129"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.9"},{"key":"e_1_2_13_18_1","volume-title":"Autosomal Recessive Congenital Ichthyosis. 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