{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:21:41Z","timestamp":1760059301425,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known as de Grouchy syndrome, is a chromosomal disorder caused by the deletion of a part of the long arm of chromosome 18. This syndrome is seen in one out of 10,000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders, and autoimmunity. Case Presentation: The patient\u2019s condition was initially suspected at birth due to abnormal features and was later confirmed through genetic testing, revealing a 46,XY,del(18) karyotype. Key clinical features include craniofacial dysmorphism, delayed growth, congenital cardiac anomalies, developmental delay, severe neurological impairment, and multiple comorbidities such as endocrine dysfunction, dental anomalies, and orthopedic deformities. Despite early interventions such as cardiac surgery, the patient\u2019s management has been challenged by limited access to specialized care. Conclusions: The case underscores the importance of timely genetic testing, early multidisciplinary care, and the role of family support in managing complex disorders. This report also addresses the gaps in healthcare accessibility in rural settings and emphasizes the need for improved infrastructure and genetic services. By comparing this case with the existing literature, the study explores the variability in clinical presentations of 18q deletion syndrome and advocates for more precise genetic testing to better understand its phenotypic spectrum. The patient\u2019s ongoing challenges with medical and socio-economic factors emphasize the critical need for coordinated care and family support in managing rare genetic conditions.<\/jats:p>","DOI":"10.3390\/reports8020084","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T12:27:09Z","timestamp":1748867229000},"page":"84","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges"],"prefix":"10.3390","volume":"8","author":[{"given":"Mona Irina","family":"Matei","sequence":"first","affiliation":[{"name":"\u201cAlexandru Obregia\u201d Psychiatry Clinical Hospital, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raluca Maria","family":"Vlad","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cGrigore Alexandrescu\u201d Emergency Children\u2019s Hospital, 011743 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.4274\/Jcrpe.1183","article-title":"Features of two cases with 18q deletion syndrome","volume":"6","author":"Mutlu","year":"2014","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Liu, S., Chen, M., Yang, H., Chen, S., Wang, L., Duan, L., Zhu, H., and Pan, H. (2021). Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review. Front. Endocrinol., 12.","DOI":"10.3389\/fendo.2021.776835"},{"key":"ref_3","unstructured":"National Organization for Rare Disorders (2025, May 28). Chromosome 18q Syndrome. Available online: https:\/\/rarediseases.org\/rare-diseases\/chromosome-18q-syndrome\/."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1080\/13691058.2018.1464208","article-title":"Pregnancy experiences of women in rural Romania: Understanding ethnic and socioeconomic disparities","volume":"21","author":"LeMasters","year":"2018","journal-title":"Cult. Health Sex."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.c.31446","article-title":"Consequences of chromsome18q deletions","volume":"169","author":"Cody","year":"2015","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.ejmg.2013.05.002","article-title":"Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature","volume":"56","author":"Feenstra","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1080\/13554790802631928","article-title":"18q Deletion syndrome: A neuropsychological case study","volume":"15","author":"Arguedas","year":"2009","journal-title":"Neurocase"},{"key":"ref_8","first-page":"307","article-title":"Neuropsychiatry and deletions of 18q; case report and diagnostic considerations","volume":"17","author":"Verhoeven","year":"2006","journal-title":"Genet. Couns."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e936142-1","DOI":"10.12659\/AJCR.936142","article-title":"Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation","volume":"23","author":"Pisano","year":"2022","journal-title":"Am. J. Case Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1258\/0022215001904473","article-title":"Hearing impairment in 18q deletion syndrome","volume":"114","author":"Jayarajan","year":"2000","journal-title":"J. Laryngol. Otol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"E94","DOI":"10.1097\/BRS.0b013e31818b88a5","article-title":"Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to Chromosome 18 q","volume":"34","author":"Gurnett","year":"2009","journal-title":"Spine"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"103740","DOI":"10.1016\/j.autrev.2024.103740","article-title":"Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations","volume":"24","author":"Giannotti","year":"2025","journal-title":"Autoimmun. Rev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1002\/ajmg.a.31850","article-title":"Genotype\u2013phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map","volume":"143A","author":"Feenstra","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_14","unstructured":"(2025, May 28). Chromosome 18 Deletion- Deletion 18p, 18q Distal and 18q Proximal. Available online: https:\/\/karyotypinghub.com\/chromosome-18-deletion-deletion-18p-18q-distal-and-18q-proximal\/."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1146\/annurev.genom.5.061903.175935","article-title":"Medical Genetics in Developing Countries","volume":"5","author":"Christianson","year":"2004","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/nrg978","article-title":"Recommendations for introducing genetics services in developing countries","volume":"4","author":"Alwan","year":"2003","journal-title":"Nat. Rev. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Ro\u0219ioar\u0103, A.-I., N\u0103sui, B.A., Ciuciuc, N., S\u00eerbu, D.M., Cur\u0219eu, D., Pop, A.L., Popescu, C.A., and Popa, M. (2024). Status of Healthy Choices, Attitudes and Health Education of Children and Young People in Romania\u2014A Literature Review. Medicina, 60.","DOI":"10.3390\/medicina60050725"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1210\/jc.2004-1630","article-title":"The Spectrum of Thyroid Abnormalities in Individuals with 18q Deletions","volume":"90","author":"Schaub","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1016\/j.jacc.2017.03.007","article-title":"Team Up!","volume":"69","author":"Walsh","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/ajmg.a.10217","article-title":"Long-term survival in a patient with del(18)(q12.2q21.1)","volume":"119A","author":"Tinkle","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Boettcher, J., Denecke, J., Barkmann, C., and Wiegand-Grefe, S. (2020). Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation. Int. J. Environ. Res. Public Health, 17.","DOI":"10.3390\/ijerph17238975"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s12687-023-00662-y","article-title":"Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana","volume":"14","author":"Opoku","year":"2023","journal-title":"J. Community Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2651","DOI":"10.1002\/ajmg.a.32013","article-title":"The emotional effects of genetic diseases: Implications for clinical genetics","volume":"143A","author":"McAllister","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3892\/etm.2021.10500","article-title":"A survey to assess the incidence of Down syndrome risk in rural southwestern Romania","volume":"22","author":"Sorop","year":"2021","journal-title":"Exp. Ther. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.fertnstert.2018.04.027","article-title":"Introduction: Personalized medicine: What is it and what are the challenges?","volume":"109","author":"Sigman","year":"2018","journal-title":"Fertil. Steril."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/s41576-022-00572-8","article-title":"Pharmacogenomics: Current status and future perspectives","volume":"24","author":"Pirmohamed","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/s41397-019-0119-8","article-title":"Opportunities for pharmacists to integrate pharmacogenomics into clinical practice","volume":"20","author":"Wang","year":"2019","journal-title":"Pharmacogenomics J."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Cecchin, E., and Stocco, G. (2020). Pharmacogenomics and Personalized Medicine. Genes, 11.","DOI":"10.3390\/genes11060679"}],"container-title":["Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/2\/84\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:45:44Z","timestamp":1760031944000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/2\/84"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,1]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["reports8020084"],"URL":"https:\/\/doi.org\/10.3390\/reports8020084","relation":{},"ISSN":["2571-841X"],"issn-type":[{"type":"electronic","value":"2571-841X"}],"subject":[],"published":{"date-parts":[[2025,6,1]]}}}