{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T13:21:25Z","timestamp":1779369685357,"version":"3.53.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T00:00:00Z","timestamp":1515110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Sheldon\u2013Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non\u2010progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (<jats:italic>MYH3<\/jats:italic>, <jats:italic>TNNI2<\/jats:italic>, <jats:italic>TPM2<\/jats:italic>, and <jats:italic>TNNT3<\/jats:italic>). <jats:italic>MYH3<\/jats:italic> plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman\u2013Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis. The last two disorders are characterized by skeletal abnormalities, in particular bony fusions. The observation that <jats:italic>MYH3<\/jats:italic> may be mutated in these syndromes has suggested the involvement of this gene in bone development. We report the case of a boy with a novel pathogenic <jats:italic>MYH3<\/jats:italic> mutation, presenting with the classical clinical features of SHS in association with unilateral carpal bone fusion and multiple vertebral fusions. This distinctive phenotype has never been reported in the literature so far and expands the phenotypic spectrum of SHS, endorsing the clinical variability of patients with <jats:italic>MYH3<\/jats:italic>\u2010related disorders. Our findings also support a role for <jats:italic>MYH3<\/jats:italic> in both muscle and bone development, suggesting a phenotypic continuum in <jats:italic>MYH3<\/jats:italic>\u2010related disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38593","type":"journal-article","created":{"date-parts":[[2018,1,9]],"date-time":"2018-01-09T22:17:45Z","timestamp":1515536265000},"page":"663-667","source":"Crossref","is-referenced-by-count":32,"title":["A novel pathogenic <i>MYH3<\/i> mutation in a child with Sheldon\u2013Hall syndrome and vertebral fusions"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"first","affiliation":[{"name":"UOC Neurochirurgia Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8724-6721","authenticated-orcid":false,"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[{"name":"UOC Neurochirurgia Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"De Grandis","sequence":"additional","affiliation":[{"name":"UOC Neuropsichiatria Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Allegri","sequence":"additional","affiliation":[{"name":"UOC Clinica Pediatrica, Endocrinologia Clinica e Sperimentale, Istituto Giannina Gaslini Universit\u00e0 di Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph P.","family":"Bagowski","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Munich Department of Molecular Genetics Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moneef","family":"Shoukier","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Munich Department of Molecular Genetics Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[{"name":"UOC Clinica Pediatrica, Endocrinologia Clinica e Sperimentale, Istituto Giannina Gaslini Universit\u00e0 di Genova Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"UOC Neurochirurgia Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00281"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35809"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36762"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.84"},{"key":"e_1_2_7_7_1","first-page":"841","volume":"96","author":"Chong J. 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