{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T23:37:09Z","timestamp":1777419429417,"version":"3.51.4"},"reference-count":12,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,9]]},"abstract":"<jats:p>A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the most important aspect of differential diagnosis lies in recognition <jats:italic>in utero<\/jats:italic>. The reported association with clover-leaf deformity of the skull in sibs provides the strongest evidence for genetic differentiation from classical achondroplasia. More evidence might be obtained by a widespread search through hospital radiological museums.<\/jats:p>","DOI":"10.1136\/jmg.10.3.243","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"243-252","source":"Crossref","is-referenced-by-count":22,"title":["Thanatophoric Dwarfism"],"prefix":"10.1136","volume":"10","author":[{"given":"K.","family":"Shah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Astley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. H.","family":"Cameron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.2214\/ajr.112.1.198","article-title":"Thanatophoric dwarfism in utero","volume":"112","author":"Campbell, R.E.","year":"1971","unstructured":"Campbell, R. E. (1971). Thanatophoric dwarfism in utero. American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 112, 198-200.","journal-title":"American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine"},{"key":"ref_2","article-title":"Metatropic dwarfism","volume-title":"Progress in Pediatric Radiology","volume":"4","author":"Gefferth, K.","year":"1973","unstructured":"Gefferth, K. (1973). Metatropic dwarfism. In Progress in Pediatric Radiology, vol. 4. Karger, Basel."},{"key":"ref_3","first-page":"53","article-title":"Thanatophoric dwarfism","volume":"120","author":"Kaufman, R.L.; Rimoin, D.L.; McAlister, W.H.; Kissane, J.M.","year":"1970","unstructured":"Kaufman, R. L., Rimoin, D. L., McAlister, W. H., and Kissane, J. M. (1970). Thanatophoric dwarfism. American Journal of Diseases of Children, 120, 53-57.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_4","author":"Keats, T.E.; Riddervold, H.O.; Michaelis, L.L.","year":"1970","unstructured":"Keats, T. E., Riddervold, H. O., and Michaelis, L. L. (1970)."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"473","DOI":"10.2214\/ajr.108.3.473","article-title":"Thanatoplioric dwarfism","volume":"108","unstructured":"Thanatoplioric dwarfism. American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 108, 473-480.","journal-title":"American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1259\/0007-1285-43-512-565","article-title":"Thanatophoric dwarfism","volume":"43","author":"Kozlowski, K.; Prokop, E.; Zybacznski, J.","year":"1970","unstructured":"Kozlowski, K., Prokop, E., and Zybacznski, J. (1970). Thanatophoric dwarfism. British Journal of Radiology, 43, 565-568.","journal-title":"British Journal of Radiology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1148\/92.2.285","article-title":"Thanatophoric dwarfism","volume":"92","author":"Langer, L.O.; Spranger, J.W.; Greinacher, I.; Herdman, R.C.","year":"1969","unstructured":"Langer, L. O., Spranger, J. W., Greinacher, I., and Herdman, R. C. (1969). Thanatophoric dwarfism. Radiology, 92, 285-294.","journal-title":"Radiology"},{"key":"ref_8","first-page":"2519","article-title":"Le nanisme thanatophore","volume":"75","author":"Maroteaux, P.; Lamy, M.; Robert, J.M.","year":"1967","unstructured":"Maroteaux, P., Lamy, M., and Robert, J. M. (1967). Le nanisme thanatophore. Presse Mddicale, 75, 2519-2524.","journal-title":"Presse Mddicale"},{"key":"ref_9","first-page":"447","article-title":"La anosteogenesi (un varieta dell' osteogenesi imperfetta)","volume":"28","author":"Parenti, G.C.","year":"1936","unstructured":"Parenti, G. C. (1936). La anosteogenesi (un varieta dell' osteogenesi imperfetta). Pathologica, 28, 447-461.","journal-title":"Pathologica"},{"key":"ref_10","first-page":"48","article-title":"Cloverleaf skull and thanatophoric dwarfism","author":"Partington, M.W.; Gonzales-Crussi, F.; Khakee, S.G.; Wollin, D.G.","year":"1971","unstructured":"Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., and Wollin, D. G. (1971). Cloverleaf skull and thanatophoric dwarfism. Archives of Disease in Childhood, 48,656-664.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"185","DOI":"10.2214\/ajr.112.1.185","article-title":"Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism","volume":"112","author":"Saldino, R.M.","year":"1971","unstructured":"Saldino, R. M. (1971). Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 112, 185-197.","journal-title":"American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine"},{"key":"ref_12","article-title":"The Centre, which formally opened in November at the begining of the 1973\/74 academic year, will offer courses and seminars in human genetics especially oriented towards students of psychology, sociology, anthropology, and education. It will also subsidize research in such areas as human behavioural genetics, sex-differences, twin studies, human growth and development, and physical features. The underlying emphasis will be on normal traits and behaviour, as distinguished from pathological conditions, and on clarifying the interacting influences of heredity and environment in producing variation among human beings","unstructured":"The Centre, which formally opened in November at the begining of the 1973\/74 academic year, will offer courses and seminars in human genetics especially oriented towards students of psychology, sociology, anthropology, and education. It will also subsidize research in such areas as human behavioural genetics, sex-differences, twin studies, human growth and development, and physical features. The underlying emphasis will be on normal traits and behaviour, as distinguished from pathological conditions, and on clarifying the interacting influences of heredity and environment in producing variation among human beings."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.3.243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:02:28Z","timestamp":1759726948000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.3.243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,9]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1973,9,1]]},"published-print":{"date-parts":[[1973,9]]}},"alternative-id":["10.1136\/jmg.10.3.243"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.3.243","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,9]]}}}