{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T18:10:27Z","timestamp":1763748627822,"version":"3.41.2"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_crpm-2021-0076_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene\u2019s mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_crpm-2021-0076_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC\u00a0syndrome. Routine transabdominal ultrasound at 14\u00a0weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16\u00a0weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17\u00a0weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_crpm-2021-0076_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/crpm-2021-0076","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T17:40:46Z","timestamp":1649439646000},"source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome \u2012 a case report with literature review"],"prefix":"10.1515","volume":"11","author":[{"given":"Egle","family":"Savukyne","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology , Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egle","family":"Machtejeviene","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kotryna","family":"Bajeruniene","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology , Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginija","family":"Asmoniene","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine , Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,4,7]]},"reference":[{"key":"2023033120062538135_j_crpm-2021-0076_ref_001","unstructured":"NORD (National Organization for Rare Disorders) [Internet]. Ectrodactyly Ectodermal Dysplasia Cleft Lip\/Palate; 2016. https:\/\/rarediseases.org\/rare-diseases\/ectrodactyly-ectodermal-dysplasia-cleft-lippalate\/."},{"key":"2023033120062538135_j_crpm-2021-0076_ref_002","doi-asserted-by":"crossref","unstructured":"Rinne, T, Brunner, HG, Van Bokhoven, H. p63-associated disorders. Cell Cycle 2007;6:262\u20138. https:\/\/doi.org\/10.4161\/cc.6.3.3796.","DOI":"10.4161\/cc.6.3.3796"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_003","doi-asserted-by":"crossref","unstructured":"Rinne, T, Bolat, E, Meijer, R, Scheffer, H, Van Bokhoven, H. Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip\/palate syndrome (AEC). Am J Med Genet Part A 2009;149A:1948\u201351. https:\/\/doi.org\/10.1002\/ajmg.a.32793.","DOI":"10.1002\/ajmg.a.32793"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_004","unstructured":"Sutton, VR, van Bokhoven, H. TP63-related disorders [internet]. GeneReviews\u00ae. Seattle: University of Washington; 1993. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK43797\/."},{"key":"2023033120062538135_j_crpm-2021-0076_ref_005","doi-asserted-by":"crossref","unstructured":"Van Bokhoven, H, Hamel, BCJ, Bamshad, M, Sangiorgi, E, Gurrieri, F, Duijf, PHG, et al.. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001;69:481\u201392. https:\/\/doi.org\/10.1086\/323123.","DOI":"10.1086\/323123"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_006","doi-asserted-by":"crossref","unstructured":"R\u00fcdiger, RA, Haase, W, Passarge, E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate: the EEC syndrome. Am J Dis Child 1970;120:160\u20133.","DOI":"10.1001\/archpedi.1970.02100070104016"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_007","doi-asserted-by":"crossref","unstructured":"Thurnam, J. Two cases in which the skin, hair and teeth were very imperfectly developed. J R Soc Med 1848;31:71\u201382. https:\/\/doi.org\/10.1177\/095952874803100108.","DOI":"10.1177\/095952874803100108"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_008","doi-asserted-by":"crossref","unstructured":"Weech, AA. Hereditary ectodermal dysplasia (congenital ectodermal defect). Am J Dis Child 1929;37:766\u201390. https:\/\/doi.org\/10.1001\/archpedi.1929.01930040075005.","DOI":"10.1001\/archpedi.1929.01930040075005"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_009","doi-asserted-by":"crossref","unstructured":"Pinheiro, M, Freire-Maia, N. Ectodermal dysplasias: a clinical classification and a causal review. 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Am J Hum Genet 2000;67:59\u201366. https:\/\/doi.org\/10.1086\/302972.","DOI":"10.1086\/302972"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_012","doi-asserted-by":"crossref","unstructured":"Khandelwal, KD, van den Boogaard, MJH, Mehrem, SL, Gebel, J, Fagerberg, C, van Beusekom, E, et al.. Deletions and loss-of-function variants in TP63 associated with orofacial clefting. Eur J Hum Genet 2019;27:1101\u201312. https:\/\/doi.org\/10.1038\/s41431-019-0370-0.","DOI":"10.1038\/s41431-019-0370-0"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_013","doi-asserted-by":"crossref","unstructured":"Van Bokhoven, H, Brunner, HG. Splitting p63. Am J Hum Genet 2002;71:1\u201313. https:\/\/doi.org\/10.1086\/341450.","DOI":"10.1086\/341450"},{"key":"2023033120062538135_j_crpm-2021-0076_ref_014","doi-asserted-by":"crossref","unstructured":"Van Zelst-Stams, WAG, Van Steensel, MAM. A novel TP63 mutation\u00a0in family with ADULT syndrome presenting with eczema\u00a0and hypothelia. 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