{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T11:43:01Z","timestamp":1788781381076,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:00:00Z","timestamp":1616544000000},"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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wolf\u2013Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). Although more than 300 persons with WHS have been reported in the literature, there is sparse, if any, long\u2010term follow\u2010up of these individuals and thus little knowledge about course and potential further complications and health risks during adulthood and advanced age. This study attempted to assess medical conditions and function of adult individuals with WHS. It was one component of a two\u2010part investigation on adults with WHS. The other part of the study is the patient\u2010reported outcomes study reported elsewhere. About 35 individuals with WHS (26 females; nine males), aged between 19 and 55\u2009years were recruited. About 25 individuals were personally observed at the IRCCS Stella Maris Foundation by A.B. and followed up between 5 and 20\u2009years; and 10 were recruited from the 4p\u2010Support Group, The United States. Of note, 23\/35 (66%) are close to total care. About 11 out of 35 (31%) were partly self\u2010independent, requiring supervision on certain daily routines, and 1 out of 35 (3%) was fully independent. However, a positive perspective is given by the overall good health enjoyed by the 66% of our cohort of individuals. Overall, quality of life and level of function into adulthood appear to be less critical than anticipated from previous studies.<\/jats:p>","DOI":"10.1002\/ajmg.a.62176","type":"journal-article","created":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T10:07:16Z","timestamp":1616580436000},"page":"1794-1802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Natural history study of adults with <scp>Wolf\u2013Hirschhorn<\/scp> syndrome 1: Case series of personally observed 35 individuals"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7128-7606","authenticated-orcid":false,"given":"Agatino","family":"Battaglia","sequence":"first","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Pisa 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