{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T05:55:49Z","timestamp":1783576549222,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,5,23]],"date-time":"2018-05-23T00:00:00Z","timestamp":1527033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened \u201cflipper\u2010like\u201d limbs, polysyndactyly, excessive underossification, especially of the limb bones and vertebrae, and large (giant) chondrocytes in the cartilaginous bone primordia. These characteristics allowed the diagnosis of Piepkorn type of osteochondrodysplasia in four new cases, three fetuses of 15 to 22 weeks and one 106\u2010year\u2010old museum exhibit. Piepkorn type of osteochondrodysplasia has been assigned to the giant cell chondrodysplasias such as atelosteogenesis type 1 (AO1) and boomerang dysplasia (BD). Analysis of the <jats:italic>Filamin B<\/jats:italic> gene in 3p14.3, which is associated with these disorders, allowed the identification of the first <jats:italic>FLNB<\/jats:italic> mutations in Piepkorn type of osteochondrodysplasia. The heterozygous missense mutations, found in the three fetuses, were located in exons 28 and 29, encoding the immunoglobulin\u2010like repeat region R15, one of three mutational hot spots in dominant <jats:italic>FLNB<\/jats:italic>\u2010related skeletal disorders. Direct preparations and alcian blue staining revealed single upper and lower arm and leg bone primordia, preaxial oligodactyly, and polysyndactyly with complete fusion and doubling of the middle and end phalanges II\u2013V to produce eight distal finger rays. Considering the unique clinical features and the extent of underossification, Piepkorn type of osteochondrodysplasia can be regarded as a distinct entity within the AO1\u2010BD\u2010POCD continuum.<\/jats:p>","DOI":"10.1002\/ajmg.a.38828","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T06:30:14Z","timestamp":1527143414000},"page":"1559-1568","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Piepkorn type of osteochondrodysplasia: Defining the severe end of <i>FLNB<\/i>\u2010related skeletal disorders in three fetuses and a 106\u2010year\u2010old exhibit"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5215-623X","authenticated-orcid":false,"given":"Helga","family":"Rehder","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"},{"name":"Institute of Pathology Philipps University of Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Laccone","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne G.","family":"Kircher","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf L.","family":"Schild","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Diacovere Friederikenstift Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Rapp","sequence":"additional","affiliation":[{"name":"Department of Praenatal Medicine Klinikum Oldenburg Oldenburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Bald","sequence":"additional","affiliation":[{"name":"Clinic of Gynaecology and Obstetrics Klinikum Leverkusen Leverkusen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernt","family":"Schulze","sequence":"additional","affiliation":[{"name":"Practice for Human Genetics Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Behunova","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juergen","family":"Neesen","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Schoner","sequence":"additional","affiliation":[{"name":"Institute of Pathology Philipps University of Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697-174"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029967"},{"issue":"3","key":"e_1_2_7_4_1","first-page":"129","article-title":"Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe \u201cboomerang dysplasia","volume":"35","author":"Canki\u2010Klain N.","year":"1992","journal-title":"Annales De Genetique"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000414"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1549777"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22012"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20348"},{"key":"e_1_2_7_9_1","unstructured":"Hausner E.(1998). 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