{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T14:30:58Z","timestamp":1786113058944,"version":"build-2736575974"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:00:00Z","timestamp":1767916800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1,9]]},"abstract":"\n Rationale:<\/jats:title>\n \n Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the\n RMRP<\/jats:italic>\n gene, which is extremely rare in the population, and its most common feature is disproportionately short limb shortness with short and thickened long bones, usually found in newborns, occasionally found in the prenatal stage, and other clinical features include a series of extracutaneous manifestations, such as hypoglycemia, gastrointestinal dysfunction, immunodeficiency, anemia and increased risk of malignant tumors, etc, the specific pathogenesis is unknown.\n <\/jats:p>\n <\/jats:sec>\n \n Patient concerns:<\/jats:title>\n The case of a 1.5-year-old male patient with severe short stature (height 70\u2009cm, <\u22123 SD), sparse scalp hair, and short limbs, without ligamentous laxity or anemia.<\/jats:p>\n <\/jats:sec>\n \n Diagnoses:<\/jats:title>\n \n Family-based whole-exome sequencing revealed compound heterozygous variants in\n RMRP<\/jats:italic>\n : NR_003051.3: n.-21_-9dup and n.5C\u2005>\u2005T. Classified as pathogenic or likely pathogenic according to ACMG guidelines, these variants confirm the diagnosis of CHH.\n <\/jats:p>\n <\/jats:sec>\n \n Interventions:<\/jats:title>\n Due to the elevated tumor predisposition associated with CHH, and because growth hormone therapy is currently contraindicated, no disease-specific interventions have been initiated.<\/jats:p>\n <\/jats:sec>\n \n Outcomes:<\/jats:title>\n We have confirmed that the child has been diagnosed with CHH, but no intervention has been given, and we will do further follow-up and look forward to finding a treatment for the disease.<\/jats:p>\n <\/jats:sec>\n \n Lessons:<\/jats:title>\n \n This report describes a rare case of\n RMRP<\/jats:italic>\n -associated CHH. This case broadens the clinical understanding of the\n RMRP<\/jats:italic>\n mutational spectrum and phenotypic variability, providing new insights into genotype-phenotype correlations in RMRP-associated disorders. We were currently unable to take effective treatment measures for this child, and we hope that in the future, there will be treatments such as gene therapy to bring hope to children and their families.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/md.0000000000047005","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T20:01:19Z","timestamp":1767988879000},"page":"e47005","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report"],"prefix":"10.1097","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5333-2138","authenticated-orcid":false,"given":"Shuangzhu","family":"Lin","sequence":"first","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-4077","authenticated-orcid":false,"given":"Qiandui","family":"Chen","sequence":"additional","affiliation":[{"name":"Pediatric Department, Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1872-9022","authenticated-orcid":false,"given":"Yangfan","family":"Qi","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2193-0446","authenticated-orcid":false,"given":"Xiaoyu","family":"Sun","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8247-7616","authenticated-orcid":false,"given":"Wanqi","family":"Wang","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Jiang","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0604-5480","authenticated-orcid":false,"given":"Xinyu","family":"Zhou","sequence":"additional","affiliation":[{"name":"College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20260805","doi-asserted-by":"crossref","first-page":"e37247","DOI":"10.1097\/MD.0000000000037247","article-title":"Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: a case report.","volume":"103","author":"Park","year":"2024","journal-title":"Medicine (Baltimore)"},{"key":"R2-20260805","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.","volume":"104","author":"Ridanp\u00e4\u00e4","year":"2001","journal-title":"Cell"},{"key":"R3-20260805","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/sj.cr.7310120","article-title":"RNase MRP RNA and human genetic diseases.","volume":"17","author":"Martin","year":"2007","journal-title":"Cell Res"},{"key":"R4-20260805","first-page":"285","article-title":"Dwarfism in the Amish. 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