{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:14:06Z","timestamp":1773418446732,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,3,26]],"date-time":"2008-03-26T00:00:00Z","timestamp":1206489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Greenberg skeletal dysplasia is a very rare, autosomal recessive, <jats:italic>in utero,<\/jats:italic> lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (<jats:italic>LBR<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the <jats:italic>LBR<\/jats:italic> gene in the third affected fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present case represents the ninth described case of Greenberg dysplasia and the second case of Greek origin. The characteristic \u2018moth\u2010eaten\u2019 radiographic appearance is already seen at 13 weeks' gestational age. Copyright \u00a9 2008 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1976","type":"journal-article","created":{"date-parts":[[2008,3,26]],"date-time":"2008-03-26T13:17:42Z","timestamp":1206537462000},"page":"309-312","source":"Crossref","is-referenced-by-count":47,"title":["Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM\/Greenberg skeletal dysplasia"],"prefix":"10.1002","volume":"28","author":[{"given":"Anastasia","family":"Konstantinidou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charalampos","family":"Karadimas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petros","family":"Kaminopetros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Grigoriadou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haris","family":"Kokotas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Agrogiannis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aglaia","family":"Giannoulia\u2010Karantana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efstratios","family":"Patsouris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,3,26]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000204063"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470226"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290321"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913129009032249"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng925"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200012)20:12<1008::AID-PD954>3.0.CO;2-S"},{"key":"e_1_2_1_8_1","first-page":"1","volume-title":"Advances in Pediatrics","author":"Kelley RI","year":"2002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.299"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200101)21:1<65::AID-PD985>3.0.CO;2-4"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1093\/oxfordjournals.jhered.a106108","article-title":"The Pelger\u2010anomaly in man and rabbit: Mendelian character of the nuclei of the leucocytes","volume":"41","author":"Nachtsheim H","year":"1950","journal-title":"J Hered"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.e129"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.937"},{"key":"e_1_2_1_14_1","first-page":"11","article-title":"The lethal osteochondrodysplasias","volume":"19","author":"Spranger J","year":"1990","journal-title":"Adv Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10578"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm065"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/373938"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1976","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1976","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T23:24:17Z","timestamp":1700004257000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3,26]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1002\/pd.1976"],"URL":"https:\/\/doi.org\/10.1002\/pd.1976","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3,26]]}}}