{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:21:42Z","timestamp":1769602902489,"version":"3.49.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"04","funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.<\/jats:p>","DOI":"10.1055\/s-0039-3401831","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T18:43:27Z","timestamp":1578336207000},"page":"263-269","source":"Crossref","is-referenced-by-count":11,"title":["Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2"],"prefix":"10.53391","volume":"09","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6869-9167","authenticated-orcid":false,"given":"Desir\u00e9e","family":"Deconte","sequence":"first","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4827-1355","authenticated-orcid":false,"given":"Tulia Cristina","family":"Kreusch","sequence":"first","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna Pavan","family":"Salvaro","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wagner Fernando","family":"Perin","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Ang\u00e9lica Tosi","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiane","family":"Kopacek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Materno Infantil Presidente Vargas and Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernani Bohrer","family":"da Rosa","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane I\u00e2ndora","family":"Heringer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo","family":"Ligabue-Braun","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"},{"name":"Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre and Santa Casa de Miseric\u00f3rdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael Fabiano Machado","family":"Rosa","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"},{"name":"Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil"},{"name":"Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre and Santa Casa de Miseric\u00f3rdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5408-2078","authenticated-orcid":false,"given":"Marilu","family":"Fiegenbaum","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"},{"name":"Department of Basic Health Sciences, Human Genetics, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,1,6]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-3401831.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:44Z","timestamp":1758138344000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-3401831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,6]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2020,7,27]]},"published-print":{"date-parts":[[2020,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-3401831","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,6]]}}}