{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T13:42:02Z","timestamp":1736516522119,"version":"3.32.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"03","license":[{"start":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T00:00:00Z","timestamp":1621555200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Global Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 (FGFR3) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male child patient presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G\u2009&gt;\u2009A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.<\/jats:p>","DOI":"10.1055\/s-0041-1725070","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T23:12:15Z","timestamp":1621638735000},"page":"100-103","source":"Crossref","is-referenced-by-count":0,"title":["Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia"],"prefix":"10.1016","volume":"08","author":[{"given":"Mahmut C.","family":"Ergoren","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdal","family":"Eren","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uluda\u011f University, Bursa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Manara","sequence":"additional","affiliation":[{"name":"MAGI\u2019s LAB S.r.l., Rovereto, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Paolacci","sequence":"additional","affiliation":[{"name":"MAGI\u2019s LAB S.r.l., Rovereto, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Tulay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebnem O.","family":"Sag","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bertelli","sequence":"additional","affiliation":[{"name":"MAGI\u2019s LAB S.r.l., Rovereto, 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