{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:29:19Z","timestamp":1780504159957,"version":"3.54.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T00:00:00Z","timestamp":1643932800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T00:00:00Z","timestamp":1643932800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pregnancy Childbirth"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Ectodermal Dysplasia is a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures. Due to a fairly low incidence, to the best of our knowledge there are few clues that can assist in making an effective prenatal ultrasound diagnosis. Currently, the prenatal diagnosis of ectodermal dysplasia depends on a fetal genetic test combined with the family history. In this case report, we present a fetal case of ectodermal dysplasia with a remarkable prenatal ultrasound image, genetic testing, family history, and relevant exams of the stillbirth.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A multipara with a 22-week singleton male pregnancy undergoing a fetal ultrasound examination. The image showed a hypoplastic maxilla and mandible. Subsequently, the ectodermal dysplasia was defined using a family history and genetic testing. The skin pathology from the aborted fetus demonstrated a hypohidrotic type. The computed tomography (CT) reconstruction after induced labor confirmed the prenatal ultrasound findings of the maxilla and mandible.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This case suggested that prenatal ultrasound may provide a valuable clue of ectodermal dysplasia. The diagnosis can be established using further prenatal genetic testing and a family history.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12884-022-04430-7","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T12:03:40Z","timestamp":1643976220000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal ultrasound findings of ectodermal dysplasia: a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"Liang","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruixia","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1747-3974","authenticated-orcid":false,"given":"Chaoxue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,2,4]]},"reference":[{"issue":"6","key":"4430_CR1","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1136\/jmg.2010.084012","volume":"48","author":"H Schneider","year":"2011","unstructured":"Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A. Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. J Med Genet. 2011;48(6):426\u201332.","journal-title":"J Med Genet"},{"issue":"1","key":"4430_CR2","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1186\/s13023-019-1251-x","volume":"14","author":"MC Mart\u00ednez-Romero","year":"2019","unstructured":"Mart\u00ednez-Romero MC, Ballesta-Mart\u00ednez MJ, L\u00f3pez-Gonz\u00e1lez V, S\u00e1nchez-Soler MJ, Serrano-Ant\u00f3n AT, Barreda-S\u00e1nchez M, et al. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J Rare Dis. 2019;14(1):281.","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"4430_CR3","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1002\/pd.5384","volume":"39","author":"J Hammersen","year":"2019","unstructured":"Hammersen J, Wohlfart S, Goecke TW, K\u00f6ninger A, Stepan H, Gallinat R, et al. 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A copy of the signed, written informed consent for publication form is available for review by the editor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"100"}}