{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:21Z","timestamp":1756339401280,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,31]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>We present an infant with persistent macrocephaly and developmental delay. There is a wide range of differential diagnoses for this presentation, including many rare genetic conditions. Here, a diagnosis of Malan syndrome was made\u2014a rare overgrowth syndrome caused by haploinsufficiency of <jats:italic>NFIX<\/jats:italic> and features affecting the neurological and musculoskeletal systems. Improvements in genomic medicine technologies and clinical services have revolutionised the way clinicians diagnose rare diseases. We highlight the importance of early genetic testing, particularly if there are red flag features such as developmental delay, and the need for a coordinated strategy to improve the management of rare diseases like Malan syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2022-249391","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T11:32:48Z","timestamp":1668511968000},"page":"e249391","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Early diagnosis of Malan syndrome in an infant presenting with macrocephaly"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9405-3688","authenticated-orcid":false,"given":"Lydia","family":"Seed","sequence":"first","affiliation":[{"name":"University of Cambridge School of Clinical Medicine, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasha","family":"G","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Lister Hospital, East and North Hertfordshire NHS Trust, Stevenage, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Prentice","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Lister Hospital, East and North Hertfordshire NHS Trust, Stevenage, UK"},{"name":"Clinical Research Department, Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prathiba","family":"Chandershekar","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Lister Hospital, East and North Hertfordshire NHS Trust, Stevenage, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"2025082701445576000_15.11.e249391.1","unstructured":"Boom J . Macrocephaly in infants and children: Etiology and evaluation. In: Drutz JE , Patterson MC , Firth HV , eds. Waltham, MA: UpToDate, 2020."},{"key":"2025082701445576000_15.11.e249391.2","unstructured":"Jones S , Samanta D . Macrocephaly. StatPearls. 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Hopkins Van Mil, 2021."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:45:07Z","timestamp":1756284307000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":20,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11,15]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1136\/bcr-2022-249391"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249391","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}