{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:01:25Z","timestamp":1762671685057},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7246,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied the light microscopic, transmission, and scanning electron microscopic (SEM) findings in 13 cases of thanathophoric dysplasia (TD) and 4 control infants. In the TD growth plate, areas with less abnormal cartilage and bone alternated with areas of severely abnormal cartilage and bone. These latter abnormal areas were always found around tongues of apparent mesenchymal tissue that appeared to penetrate from the investing perichondrium and periosteum. The ultrastructure of the less abnormal areas was similar to that of the control infants, including cell and matrix structure as well as mineralization. The abnormal cartilage and bone had many ultrastructural abnormalities that were also found in the adjacent mesenchymal tissue. The mesenchymal cells, adjacent chondrocytes, and osteoblasts contained dilated endoplasmic reticulum and moderately large intracytoplasmic vacuoles. In the area adjacent to the cartilage, the matrix of the apparent mesenchyme contained thin collagen fibers and proteoglycan granules, whereas the matrix adjacent to the bone contained thick bundles of short collagen fibers. The matrix of the surrounding cartilage and bone resembled the adjacent matrix in the mesenchyme. In addition, many vesicular structures or osmiophilic particles were found in the matrix of the mesenchyme and adjacent cartilage and bone. SEM examination showed normal and abnormal bone trabeculae adjacent to each other. In the abnormal trabeculae, there were large, densely packed osteoblastic and osteocytic lacunae. The calcified collagen fibers had a random orientation, in contrast to the longitudinal orientation in the relatively normal bone. Chemical studies of collagen in the metaphyses of bones from five infants with TD showed a small amount of collagen type III (less than 5%), which was not found in three control infants. Thus, a basic pathogenetic mechanism in the skeletal abnormalities of TD appears to be the focal replacement of the growth plate and periosteum by persisting abnormal mesenchymal\u2010like tissue from which the abnormal bone originates.<\/jats:p>","DOI":"10.1002\/ajmg.1320210402","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:25Z","timestamp":1118519965000},"page":"613-630","source":"Crossref","is-referenced-by-count":27,"title":["The role of mesenchyme\u2010like tissue in the pathogenesis of thanatophoric dysplasia"],"prefix":"10.1002","volume":"21","author":[{"given":"A.","family":"Ornoy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. E.","family":"Adomian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. 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L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0221-8747(81)90009-6"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00337312"},{"key":"e_1_2_1_4_1","first-page":"163","article-title":"Matrix vesicles in ageing cartilage","volume":"35","author":"Bonucci E","year":"1976","journal-title":"Fed Proc Am Soc Exp Biol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00542847"},{"key":"e_1_2_1_6_1","first-page":"783A","article-title":"Abnormal cartilage collagen in thanatophoric dwarfism","volume":"27","author":"Hollister DW","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00972730"},{"key":"e_1_2_1_8_1","first-page":"53","article-title":"Thanatophoric dwarfism","volume":"120","author":"Kaufman RL","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)60607-9"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001510110"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001380204"},{"key":"e_1_2_1_12_1","first-page":"2519","article-title":"Le namisme thanatophore","volume":"75","author":"Maroteaux P","year":"1967","journal-title":"Presse Med"},{"key":"e_1_2_1_13_1","first-page":"21","article-title":"The lethal chondrodysplasias","volume":"114","author":"Maroteaux P","year":"1976","journal-title":"Clin Orthop"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01731779"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992287701600803"},{"key":"e_1_2_1_16_1","first-page":"71","article-title":"Achondrogenesis type 1 in three sibling fetuses. Scanning and transmission electron microscopic studies","volume":"82","author":"Ornoy A","year":"1976","journal-title":"Am J Pathol"},{"key":"e_1_2_1_17_1","first-page":"26","article-title":"Scanning electron microscopic finding in osteogenesis imperfecta fetalis","volume":"13","author":"Ornoy A","year":"1977","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_18_1","first-page":"928","article-title":"Scanning and transmission electron microscopic observation on the origin and structure of matrix vesicles in normal and papain digested epiphyseal cartilage of young rats","volume":"15","author":"Ornoy A","year":"1979","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.46.249.656"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-9068-2_1"},{"key":"e_1_2_1_21_1","first-page":"813","article-title":"Morphologic studies in the skeletal dysplasias","volume":"96","author":"Sillence DO","year":"1979","journal-title":"Am J Pathol"},{"key":"e_1_2_1_22_1","first-page":"1","article-title":"Etude morphologique et biochimique de cartilage de croissance dans les osteochondrodysplasies","volume":"33","author":"Stanescu V","year":"1977","journal-title":"Arch Fra Pediatr"},{"key":"e_1_2_1_23_1","first-page":"179","volume-title":"Biology of Cartilage Cells","author":"Stockwell RA","year":"1979"},{"key":"e_1_2_1_24_1","first-page":"149","article-title":"Developmental horizons in human embryos. 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