{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T01:59:13Z","timestamp":1787968753166,"version":"build-2784847793"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,18]],"date-time":"2020-04-18T00:00:00Z","timestamp":1587168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Royal Women's Hospital"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (<jats:italic>LBR<\/jats:italic>) gene. Pathogenic variants in <jats:italic>LBR<\/jats:italic> are also associated with Pelger\u2013Hu\u00ebt anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger\u2013Hu\u00ebt anomaly with variable skeletal anomalies, a mild, regressing to moderate\u2013severe autosomal recessive condition. Conditions with abnormal sterol metabolism and different genetic basis have clinical and radiographic features similar to Greenberg dysplasia, for example X\u2010linked dominant chondrodysplasia punctata, Conradi\u2013H\u00fcnermann type, and CHILD syndrome, and other conditions with unknown genetic etiology display very similar features, for example, dappled diaphyseal dysplasia and Astley\u2013Kendall dysplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present a fetus with typical clinical and radiographic features of Greenberg dysplasia, and review the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic testing confirmed the diagnosis Greenberg dysplasia: homozygosity for a pathogenic variant in <jats:italic>LBR.<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Comparing the clinical and radiographic phenotypes of Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley\u2013Kendall dysplasia, we suggest that these are allelic disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1173","type":"journal-article","created":{"date-parts":[[2020,4,18]],"date-time":"2020-04-18T07:58:49Z","timestamp":1587196729000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley\u2013Kendall dysplasia are allelic disorders"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3424-0590","authenticated-orcid":false,"given":"Pernille A.","family":"Gregersen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"},{"name":"Pediatrics and Adolescent Medicine Centre for Rare Diseases Aarhus University Hospital Aarhus Denmark"},{"name":"Victorian Clinical Genetics Services The 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