{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T15:00:17Z","timestamp":1771599617540,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,24]]},"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:p>Cartilage\u2013hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia. It is often associated with short stature, metaphyseal abnormalities, hair hypoplasia and immune dysfunction. This case describes a pregnant woman in her mid-30s with two previous children diagnosed with CHH with molecular confirmation of two pathogenic variants of the ribonuclease mitochondrial RNA processing gene. The couple is healthy and non-consanguineous. Routine ultrasound examination of the current pregnancy suggested this fetus was also likely to be affected. The couple opted not to perform invasive prenatal diagnosis. Umbilical cord blood was collected at birth for genetic testing, confirming the diagnosis. CHH has a significant impact on the quality of life of those affected. Genetic counselling may help parents understand the disease and its prognosis. Obstetric ultrasound plays an important role in the diagnosis by allowing early detection of suspected cases as well as assessing fetal growth.<\/jats:p>","DOI":"10.1136\/bcr-2025-267490","type":"journal-article","created":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T14:00:11Z","timestamp":1771596011000},"page":"e267490","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Familial cartilage\u2013hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4530-757X","authenticated-orcid":false,"given":"Catarina","family":"Portela Carvalho","sequence":"first","affiliation":[{"name":"Medicine, Unidade Local de Sa\u00fade de Santo Ant\u00f3nio EPE, Porto, Portugal"},{"name":"University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreia","family":"Martins","sequence":"additional","affiliation":[{"name":"University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal"},{"name":"Department of Women and Reproductive Medicine, Centro Hospitalar do Porto, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00eas","family":"Alves","sequence":"additional","affiliation":[{"name":"ANDO Portugal - National Association for Skeletal Dysplasias, \u00c9vora, Portugal"},{"name":"University of \u00c9vora School of Health and Human Development, Evora, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0491-0752","authenticated-orcid":false,"given":"Lu\u00eds","family":"Guedes-Martins","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal"},{"name":"Department of Women and Reproductive Medicine, Centro Hospitalar do Porto, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,2,20]]},"reference":[{"key":"2026022006000434000_19.2.e267490.1","first-page":"285","article-title":"Cartilage-hair hypoplasia","volume":"116","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"2026022006000434000_19.2.e267490.2","unstructured":"M\u00e4kitie O , Hypoplasia V-H . Anauxetic dysplasia spectrum disorders. In: Adam MP , Feldman J , Mirzaa GM , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 1993."},{"key":"2026022006000434000_19.2.e267490.3","doi-asserted-by":"crossref","DOI":"10.1111\/sji.12913","article-title":"Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management","volume":"92","author":"Vakkilainen","year":"2020","journal-title":"Scand J Immunol"},{"key":"2026022006000434000_19.2.e267490.4","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s11832-015-0646-z","article-title":"Cartilage hair hypoplasia: characteristics and orthopaedic manifestations","volume":"9","author":"Riley","year":"2015","journal-title":"J Child Orthop"},{"key":"2026022006000434000_19.2.e267490.5","doi-asserted-by":"crossref","first-page":"104162","DOI":"10.1016\/j.ejmg.2021.104162","article-title":"Early prenatal presentation of the cartilage-hair hypoplasia \/ anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia","volume":"64","author":"Hall","year":"2021","journal-title":"Eur J Med Genet"},{"key":"2026022006000434000_19.2.e267490.6","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.ejmg.2013.04.004","article-title":"Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation","volume":"56","author":"Crahes","year":"2013","journal-title":"Eur J Med Genet"},{"key":"2026022006000434000_19.2.e267490.7","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2676"},{"key":"2026022006000434000_19.2.e267490.8","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/pd.4066","article-title":"Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA","volume":"33","author":"Chitty","year":"2013","journal-title":"Prenat Diagn"},{"key":"2026022006000434000_19.2.e267490.9","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1159\/000264353","article-title":"Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis","volume":"11","author":"Dungan","year":"1996","journal-title":"Fetal Diagn Ther"},{"key":"2026022006000434000_19.2.e267490.10","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacig.2023.100190","article-title":"Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia","volume":"3","author":"Pello","year":"2024","journal-title":"J Allergy Clin Immunol Glob"},{"key":"2026022006000434000_19.2.e267490.11","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63562","article-title":"rmrp \u2010related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review","volume":"194","author":"Uchida","year":"2024","journal-title":"American J of Med Genetics Pt A"},{"key":"2026022006000434000_19.2.e267490.12","doi-asserted-by":"crossref","DOI":"10.3892\/mmr.2025.13446","article-title":"RMRP variants inhibit the cell cycle checkpoints pathway in cartilage\u2011hair hypoplasia","volume":"31","author":"Gao","year":"2025","journal-title":"Mol Med Rep"},{"key":"2026022006000434000_19.2.e267490.13","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610210.x"},{"key":"2026022006000434000_19.2.e267490.14","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1159\/000501892","article-title":"Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome","volume":"10","author":"Gomes","year":"2020","journal-title":"Mol Syndromol"},{"key":"2026022006000434000_19.2.e267490.15","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-024-64407-8","article-title":"Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients","volume":"14","author":"Gomes","year":"2024","journal-title":"Sci Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267490","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T14:00:14Z","timestamp":1771596014000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,2,20]]},"published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1136\/bcr-2025-267490"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267490","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]}}}