{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:35Z","timestamp":1790516555021,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6912,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a new type of bone dysplasia, the \u201eacromicric dysplasia\u201d\ufe01, based on the study of six patients. This dysplasia is characterized clinically by mild facial anomalies, markedly shortened hands and feet, and growth retardation that is severe in most of cases.<\/jats:p><jats:p>Roentgenograms of the hands are characteristic: the metacarpals and the phalanges are short and stubby, the proximal portion of the last four metacarpals are slightly pointed with an external notch on the 2nd metacarpal and an internal notch on the 5th metacarpal, similar to pseudoepiphyses. The shape of the epiphysis and the metaphysis of the long bones is almost normal, except for a slight deformation of the femoral heads in some patients. No signs of visceral storage were found, which rules out geleophysic dwarfism. The histological, histochemical, and electron microscopical examination of the growth cartilage in two cases showed similar lesions: disorganization of the growth zone with islands of cells, some of them degenerated; abnormal organization of collagen forming thick rims around the cells and wide fibers in the interterritorial matrix; large accumulation of glycogen in most chondrocytes.<\/jats:p><jats:p>Both sexes are affected; all patients are isolated cases from normal families.<\/jats:p>","DOI":"10.1002\/ajmg.1320240307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:05:48Z","timestamp":1118520348000},"page":"447-459","source":"Crossref","is-referenced-by-count":37,"title":["Acromicric dysplasia"],"prefix":"10.1002","volume":"24","author":[{"given":"Pierre","family":"Maroteaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritta","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Rappaport","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(72)90020-3"},{"key":"e_1_2_1_3_1","first-page":"236","volume-title":"Fine Structure of Synovial Joints","author":"Ghadially FN","year":"1983"},{"key":"e_1_2_1_4_1","first-page":"714","volume-title":"Ultrastructural Pathology of the Cell and Matrix","author":"Ghadially FN","year":"1982"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160210"},{"key":"e_1_2_1_6_1","first-page":"347","article-title":"Organ culture studies of achondroplastic rabbit cartilage: Evidence for a metabolic defect in glucose utilization","volume":"25","author":"Shepard TH","year":"1971","journal-title":"J Embryol Exp Morphol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5320(76)80029-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)92073-3"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190310"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190311"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0174-173X(82)80027-7"},{"key":"e_1_2_1_12_1","first-page":"577","article-title":"The tibial growing cartilage biopsy in the study of growth disturbances","volume":"64","author":"Stanescu V","year":"1970","journal-title":"Acta Endocrinol"},{"issue":"3","key":"e_1_2_1_13_1","first-page":"1","article-title":"Etude morphologique et biochimique du cartilage de croissance dans les ost\u00e9ochondrodysplasies","volume":"34","author":"Stanescu V","year":"1977","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"817","DOI":"10.2106\/00004623-198466060-00002","article-title":"Pathogenic mechanisms in osteochondrodysplasias","volume":"66","author":"Stanescu V","year":"1984","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_15_1","first-page":"20","volume-title":"Biology of Cartilage Cells","author":"Stockwell RA","year":"1979"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320240307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320240307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T18:27:13Z","timestamp":1697826433000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320240307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,7]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,7]]}},"alternative-id":["10.1002\/ajmg.1320240307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320240307","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,7]]}}}