{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:33:34Z","timestamp":1777329214912,"version":"3.51.4"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (\n                    <jats:italic>FLNA<\/jats:italic>\n                    ) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the\n                    <jats:italic>FLNA<\/jats:italic>\n                    gene (NM_ 001110556.1: c.620C&gt;T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0024","type":"journal-article","created":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T04:04:25Z","timestamp":1576987465000},"page":"83-88","source":"Crossref","is-referenced-by-count":1,"title":["Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings"],"prefix":"10.2478","volume":"22","author":[{"given":"I","family":"Joksic","sequence":"first","affiliation":[{"name":"Gynecology and Obstetrics Clinic \u201cNarodni Front\u201d , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Cuturilo","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"},{"name":"University Children\u2019s Hospital , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Jurisic","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic \u201cNarodni Front\u201d , Belgrade , Serbia"},{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Djuricic","sequence":"additional","affiliation":[{"name":"Department of Pathology, Institute for Mother and Child Health Care \u201cDr Vukan Cupic\u201d , Belgrade , Serbia"},{"name":"School of Medicine, University of Banjaluka , Banjaluka , Bosnia and Herzegovina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute for Genomic Medicine , Ljubljana , Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mijovic","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlic N","family":"Karadzov","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic \u201cNarodni Front\u201d , Belgrade , Serbia"},{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Egic","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic \u201cNarodni Front\u201d , Belgrade , Serbia"},{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z","family":"Milovanovic","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic \u201cNarodni Front\u201d , Belgrade , Serbia"},{"name":"Faculty of Medicine, University of Belgrade , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,21]]},"reference":[{"key":"2026042716341997914_j_bjmg-2019-0024_ref_001","doi-asserted-by":"crossref","unstructured":"Robertson SP. Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, fronto-metaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet. 2007; 15(1): 3-9.","DOI":"10.1038\/sj.ejhg.5201654"},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_002","unstructured":"Robertson S. In: Adam MP, Ardinger HH, Pagon RA, Wallace Se, Bean LJH, Stephens K, et al. (editors). X-Linked Otopalatodigital Spectrum Disorders (1993-2019). GeneReviews\u00ae [Internet]. Seattle, WA, USA: University of Washington, Seattle; 2005 [updated 2019]."},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_003","doi-asserted-by":"crossref","unstructured":"Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009; 18(24): 4791-4800.","DOI":"10.1093\/hmg\/ddp442"},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_004","doi-asserted-by":"crossref","unstructured":"Robertson S, Twigg S, Sutherland-Smith A, Biancalana V, Gorlin R, Horn D, et al. The OPD Spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003; 33(4): 487-491.","DOI":"10.1038\/ng1119"},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_005","unstructured":"Le Marec B, Odent S, Bracq E, Bulard MB, Bourdini\u00e8re J, Babut JM. Oto-palato-digital type I syndrome in five generations. Relationship to the type II form. Ann Genet. 1988; 31(3): 155-161."},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_006","doi-asserted-by":"crossref","unstructured":"Dudding BA, Gorlin RJ, Langer LO. The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child. 1967; 113(2): 214-221.","DOI":"10.1001\/archpedi.1967.02090170078006"},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_007","doi-asserted-by":"crossref","unstructured":"Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, et al. Postzygotic mutation and germline mosaicism in the oto-palatodigital syndrome spectrum disorders. Eur J Hum Genet. 2006; 14(5): 549-554.","DOI":"10.1038\/sj.ejhg.5201586"},{"key":"2026042716341997914_j_bjmg-2019-0024_ref_008","doi-asserted-by":"crossref","unstructured":"Murphy-Ryan M, Babovic-Vuksanovic D, Lindor N. Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. 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