{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T22:19:01Z","timestamp":1780438741433,"version":"3.54.1"},"reference-count":23,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","award":["AP171442019"],"award-info":[{"award-number":["AP171442019"]}],"id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","award":["2017SGR1134"],"award-info":[{"award-number":["2017SGR1134"]}],"id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003030","name":"Autonomous Catalan Government","doi-asserted-by":"publisher","award":["AP171442019"],"award-info":[{"award-number":["AP171442019"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003030","name":"Autonomous Catalan Government","doi-asserted-by":"publisher","award":["2017SGR1134"],"award-info":[{"award-number":["2017SGR1134"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases.<\/jats:p>","DOI":"10.3390\/jcm11133570","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T21:55:19Z","timestamp":1655848519000},"page":"3570","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review"],"prefix":"10.3390","volume":"11","author":[{"given":"Miriam","family":"Potrony","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain"},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4304-4797","authenticated-orcid":false,"given":"Antoni","family":"Borrell","sequence":"additional","affiliation":[{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Cl\u00ednic and Hospital Sant Joan de Deu), Institut Cl\u00ednic de Ginecologia, Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center, Universitat de Barcelona, 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4159-7811","authenticated-orcid":false,"given":"Narc\u00eds","family":"Masoller","sequence":"additional","affiliation":[{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital 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University of Catalonia (UVic-UCC), 08500 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8106-6121","authenticated-orcid":false,"given":"Karmele","family":"Saez de Gordoa Elizalde","sequence":"additional","affiliation":[{"name":"Pathology Department, Biomedical Diagnostic Center Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4420-5214","authenticated-orcid":false,"given":"Juan Francisco","family":"Quesada-Espinosa","sequence":"additional","affiliation":[{"name":"Genetics Department, 12 de Octubre University Hospital, 28041 Madrid, Spain"},{"name":"UDISGEN (Unidad de Dismorfolog\u00eda y Gen\u00e9tica), 12 de Octubre University Hospital, 28041 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7445-1267","authenticated-orcid":false,"given":"Jose 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