{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T10:10:13Z","timestamp":1758881413429,"version":"3.44.0"},"reference-count":29,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cVictor Babes\u201d University of Medicine and Pharmacy, Timisoara, Romania"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Type I collagen is the most abundant protein of the extracellular matrix. Pathogenic variants in COL1A1 or COL1A2 are classically associated with osteogenesis imperfecta (OI) and Ehlers\u2013Danlos syndrome (EDS). An emerging clinical entity\u2014COL1-related overlap disorder\u2014encompasses individuals exhibiting phenotypic features of both conditions. Methods: We report a 55-year-old male presenting with disproportionate short stature, grayish-blue sclerae, multiple fractures, long bone deformities, joint hypermobility, and atrophic surgical scarring. The patient also had long-standing, untreated childhood-onset hypopituitarism. Imaging studies revealed numerous prior fractures, bowing of forearm bones, and multiple Wormian bones. Results: Genetic testing confirmed a novel heterozygous COL1A1 exon 14 variant (c.940G &gt; A, p.Gly314Arg), presenting with a phenotype consistent with a COL1-related overlap syndrome. Conclusions: This case expands the phenotypic spectrum of COL1A1 mutations and supports the concept of COL1-related phenotypic overlap.<\/jats:p>","DOI":"10.3390\/diagnostics15192453","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T06:02:52Z","timestamp":1758866572000},"page":"2453","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-9366-8473","authenticated-orcid":false,"given":"Oriana-Eliana","family":"Pelineagr\u0103","sequence":"first","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6032-6246","authenticated-orcid":false,"given":"Ioana","family":"Golu","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7554-4625","authenticated-orcid":false,"given":"Adela","family":"Chiri\u0163\u0103-Emandi","sequence":"additional","affiliation":[{"name":"Part of ERN ITHACA, Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300723 Timisoara, Romania"},{"name":"Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy Timisoara, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7135-1380","authenticated-orcid":false,"given":"Melania","family":"Bala\u015f","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2647-4234","authenticated-orcid":false,"given":"Nicoleta Ioana","family":"Andreescu","sequence":"additional","affiliation":[{"name":"Part of ERN ITHACA, Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300723 Timisoara, Romania"},{"name":"Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy Timisoara, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8880-7501","authenticated-orcid":false,"given":"C\u0103t\u0103lin Vasile","family":"Munteanu","sequence":"additional","affiliation":[{"name":"Part of ERN ITHACA, Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300723 Timisoara, Romania"},{"name":"Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy Timisoara, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9547-2061","authenticated-orcid":false,"given":"Daniela-Georgiana","family":"Amz\u0103r","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5965-9071","authenticated-orcid":false,"given":"Iulia","family":"Plotuna","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Aruncutean","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0276-1650","authenticated-orcid":false,"given":"Mihaela","family":"Vlad","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine\u2013Discipline of Endocrinology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"},{"name":"Department of Endocrinology, County Emergency Hospital Timisoara, Blvd. Liviu Rebreanu 156, 300723 Timisoara, Romania"},{"name":"Center for Molecular Research in Nephrology and Vascular Disease, \u201cVictor Babes\u201d University of Medicine and Pharmacy, P-Ta Eftimie Murgu 2, 300041 Timisoara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Gnoli, M., Brizola, E., Tremosini, M., Pedrini, E., Maioli, M., Mosca, M., Bassotti, A., Castronovo, P., Giunta, C., and Sangiorgi, L. 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