{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T11:19:34Z","timestamp":1785151174871,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Brachyolmia is a skeletal dysplasia characterized by short spine\u2010short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19\u2009years, with the autosomal recessive form, associated with <jats:italic>PAPSS2<\/jats:italic>. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity. Eight patients presented prenatally with short femora, whereas later in childhood their short\u2010spine phenotype emerged. We observed the same pattern of changing skeletal proportion in other patients. The radiological findings included platyspondyly, irregular end plates of the elongated vertebral bodies, narrow disc spaces and short over\u2010faced pedicles. In the limbs, there was mild shortening of femoral necks and tibiae in some patients, whereas others had minor epiphyseal or metaphyseal changes. In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous <jats:italic>PAPSS2<\/jats:italic> variants, including c.809G&gt;A, common to white European patients. Bi\u2010parental inheritance was established where possible. Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across continents and may be under\u2010recognized in infancy. This condition should be considered in the differential diagnosis of short femora presenting in the second trimester.<\/jats:p>","DOI":"10.1002\/ajmg.a.61282","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T06:00:32Z","timestamp":1563343232000},"page":"1884-1894","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>PAPSS2<\/i>\u2010related brachyolmia: Clinical and radiological phenotype in 18 new cases"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3114-4632","authenticated-orcid":false,"given":"Lucy","family":"Bownass","sequence":"first","affiliation":[{"name":"Clinical Genetics, St Michael's Hospital Bristol University Hospitals Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[{"name":"East Midlands and East of 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