{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075667,"version":"build-2065373602"},"reference-count":1,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:p>Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be considered as having a variant form of cartilage-hair hypoplasia, with a clinically distinct phenotype, which could be as common as 'true' cartilage-hair hypoplasia among non-Amish populations. Microscopic examination of the hair may show reduction in the diameter of the hair shaft. This form of metaphyseal dysplasia may result from allelic heterogeneity.<\/jats:p>","DOI":"10.1136\/jmg.27.11.693","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"693-696","source":"Crossref","is-referenced-by-count":20,"title":["Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia."],"prefix":"10.1136","volume":"27","author":[{"given":"A","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G E","family":"Pierard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,11,1]]},"reference":[{"key":"ref_1","first-page":"270","article-title":"Cartilage-hair hypoplasia. In: Intrinsic diseases of bone. Progress in Pediatric Radiology Vol 4","author":"Ray, H.C.; Dorst, J.P.","year":"1973","unstructured":"Ray HC, Dorst JP. Cartilage-hair hypoplasia. In: Intrinsic diseases of bone. Progress in Pediatric Radiology Vol 4. Basel: Karger, 1973:270-98."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.11.693","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:24:24Z","timestamp":1760739864000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.11.693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":1,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1990,11,1]]},"published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1136\/jmg.27.11.693"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.11.693","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,11]]}}}