{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:54:36Z","timestamp":1791381276614,"version":"4.3.3"},"reference-count":5,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,18]]},"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:p>\n                    This case report details a neonate diagnosed with arthrogryposis multiplex congenita (AMC), specifically the amyoplasia subtype, presenting with bilateral talipes equinovarus, elbow contractures, ulnar deviation of the wrists and clinodactyly. Additional clinical findings included mild developmental dysplasia of the hips and a small atrial septal defect. Genetic analysis revealed heterozygous variants of uncertain significance in the\n                    <jats:italic>SYNE1<\/jats:italic>\n                    and\n                    <jats:italic>CHD4<\/jats:italic>\n                    genes, both of which were inherited from asymptomatic parents. While\n                    <jats:italic>SYNE1<\/jats:italic>\n                    is associated with autosomal recessive AMC type 3 and\n                    <jats:italic>CHD4<\/jats:italic>\n                    with Sifrim-Hitz-Weiss syndrome, the contribution of these genes to this patient\u2019s phenotype remains unclear. This case underscores the diagnostic complexities of AMC and highlights the necessity for further genetic investigations and long-term follow-up to clarify genotype-phenotype correlations.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-266256","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:15:23Z","timestamp":1791378923000},"page":"e266256","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Complex presentation of neonatal arthrogryposis multiplex congenita: insights into a multifactorial disorder"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9784-5904","authenticated-orcid":false,"given":"Sujith","family":"Botsa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, AIIMS Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8919-6913","authenticated-orcid":false,"given":"Sanjana Somanath","family":"Hansoge","sequence":"additional","affiliation":[{"name":"Department of Neonatology, AIIMS Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0531-1751","authenticated-orcid":false,"given":"Nishant","family":"Banait","sequence":"additional","affiliation":[{"name":"Department of Neonatology, AIIMS Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4401-5431","authenticated-orcid":false,"given":"Amit","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neonatology, AIIMS Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"2026100706151736000_19.10.e266256.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"2026100706151736000_19.10.e266256.2","doi-asserted-by":"crossref","unstructured":"Sucuoglu H , Ornek NI , Caglar C . Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures. Case Rep Med 2015;2015. doi:10.1155\/2015\/379730","DOI":"10.1155\/2015\/379730"},{"key":"2026100706151736000_19.10.e266256.3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2106\/JBJS.I.00281","article-title":"Arthrogryposis: a review and update","volume":"91 Suppl 4","author":"Bamshad","year":"2009","journal-title":"J Bone Joint Surg Am"},{"key":"2026100706151736000_19.10.e266256.4","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.114.24.4485"},{"key":"2026100706151736000_19.10.e266256.5","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0612-0"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:15:26Z","timestamp":1791378926000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":5,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,10,7]]},"published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1136\/bcr-2025-266256"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266256","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]}}}