{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:52:44Z","timestamp":1787014364983,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,6,4]],"date-time":"2017-06-04T00:00:00Z","timestamp":1496534400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2017,6]]},"abstract":"\n Background<\/jats:title>\n \n Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (\n BCC<\/jats:styled-content>\n ), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of\n BCC<\/jats:styled-content>\n , it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health\u2010related quality of life (\n QoL<\/jats:styled-content>\n ) in individuals with Gorlin syndrome is not well studied.\n <\/jats:p>\n <\/jats:sec>\n \n Aim<\/jats:title>\n \n To establish a Victorian cohort of Gorlin syndrome and study the\n QoL<\/jats:styled-content>\n in these individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Phenotypic data were obtained by reviewing medical records of individuals attending two major tertiary\/quaternary genetic referral centres in Victoria, followed by telephone or face\u2010to\u2010face interviews where possible.\n QoL<\/jats:styled-content>\n information was obtained utilising the\n AQoL\u20106D<\/jats:styled-content>\n quality of life survey form.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The median number of\n BCC<\/jats:styled-content>\n in the 19 individuals studied was 17.5 (interquartile range 3\u201370). The number of patients with \u2265100\n BCC<\/jats:styled-content>\n in this group was similar to a previously described national cohort (22.2 vs 27% respectively). A total of 58% of referrals to the genetics clinics originated from maxillofacial surgeons and 42% from dermatologists. Individuals with \u2265100\n BCC<\/jats:styled-content>\n had worse median\n QoL<\/jats:styled-content>\n scores compared to those with <100\n BCC<\/jats:styled-content>\n (36 vs 29,\n P<\/jats:italic>\n \u2010value of 0.031).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The clinical features in our cohort were congruent with those previously described in Australia. The\n QoL<\/jats:styled-content>\n is adversely correlated with increased\n BCC<\/jats:styled-content>\n burden.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/imj.13429","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T03:31:52Z","timestamp":1490239912000},"page":"664-673","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2341-2932","authenticated-orcid":false,"given":"Aamira J.","family":"Huq","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bogwitz","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine 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