{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:09:35Z","timestamp":1765231775616,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,4]]},"abstract":"<jats:p>Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the thoracic vertebrae, and mesomelia of the limbs, with the upper limbs being obviously more affected than the lower. The facial appearances of the two are identical, with hypertelorism, depressed nasal bridge, large bony upper lip, constantly open mouth, and peg-like teeth. We believe this combination has not been described before and represents the effect of a 'new' recessive gene. We would like to name this combination Covesdem syndrome (costovertebral segmentation defect with mesomelia).<\/jats:p>","DOI":"10.1136\/jmg.15.2.123","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"123-127","source":"Crossref","is-referenced-by-count":37,"title":["Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?"],"prefix":"10.1136","volume":"15","author":[{"given":"R S","family":"Wadia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D B","family":"Shirole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M S","family":"Dikshit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"403","DOI":"10.7326\/0003-4819-64-2-403","article-title":"Basal cell nevus syndrome","volume":"64","author":"Berlin, N.I.; Van Scott, E.J.; Clendenning, W.E.; Archard, H.D.Block; B., J.; Witkop, C.J.; Haynes, H.A.","year":"1966","unstructured":"Berlin, N. I., Van Scott, E. J., Clendenning, W. E., Archard, H. D. Block, J. B., Witkop, C. J., and Haynes, H. A. (1966). Basal cell nevus syndrome. Annals ofInternal medicine, 64, 403-421.","journal-title":"Annals ofInternal medicine"},{"key":"ref_2","first-page":"1109","article-title":"Pediatric X-ray Diagnosis","author":"Caffey, J.","year":"1967","unstructured":"Caffey, J. (1967). Pediatric X-ray Diagnosis, 5th ed., p. 1109. Year Book Medical Publishers. Chicago.","edition":"5th ed"},{"key":"ref_3","first-page":"74","article-title":"Localized abnormalities in limbs","volume-title":"The Genetics ofLocomotor Disorders","author":"Carter, C.O.; Fairbank, T.J.","year":"1974","unstructured":"Carter, C. O., and Fairbank, T. J. (1974). Localized abnormalities in limbs. In The Genetics ofLocomotor Disorders, p. 74. Oxford University Press, London."},{"key":"ref_4","article-title":"Syndromes of the Head and Neck","author":"Gorlin, R.J.; Pindborg, J.J.","year":"1964","unstructured":"Gorlin, R. J., and Pindborg, J. J. (1964). Syndromes of the Head and Neck. McGraw-Hill, New York."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/j.1365-2133.1952.tb16176.x","article-title":"The Bloch Sulzerberger syndrome (incontinentia pigmenti)","volume":"64","author":"Haber, H.","year":"1952","unstructured":"Haber, H. (1952). The Bloch Sulzerberger syndrome (incontinentia pigmenti). British Journal ofDermatology, 64, 129-140.","journal-title":"British Journal ofDermatology"},{"key":"ref_6","first-page":"432","article-title":"Dyschondrosteosis. The most common cause of Madelung's deformity","volume":"68","author":"Herdman, R.C.; Langer, L.O.; Good, R.A.","year":"1966","unstructured":"Herdman, R. C., Langer, L. O., and Good, R. A. (1966). Dyschondrosteosis. The most common cause of Madelung's deformity. 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Bulletin of the Johns Hopkins Hospital, 62, 216-226.","journal-title":"Bulletin of the Johns Hopkins Hospital"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1148\/89.4.654","article-title":"Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type","volume":"89","author":"Langer, Jr, L.O.","year":"1967","unstructured":"Langer, L. O., Jr. (1967). Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology, 89, 654-660.","journal-title":"Radiology"},{"key":"ref_10","first-page":"574","article-title":"Multiple congenital dislocations associated with characteristic facial abnormality","volume":"37","author":"Larsen, L.J.; Scottstaedt, E.R.; Best, F.C.","year":"1950","unstructured":"Larsen, L. J., Scottstaedt, E. R., and Best, F. C. (1950). Multiple congenital dislocations associated with characteristic facial abnormality. Journal ofPediatrics, 37, 574-581.","journal-title":"Journal ofPediatrics"},{"key":"ref_11","first-page":"11211125","article-title":"A syndrome of bizarre vertebral anomalies","volume":"69","author":"Lavy, N.W.; Palmer, C.G.; Merritt, A.D.","year":"1966","unstructured":"Lavy, N. W., Palmer, C. G., and Merritt, A. D. (1966). A syndrome of bizarre vertebral anomalies. Journal of Pediatrics, 69, 11211125.","journal-title":"Journal of Pediatrics"},{"key":"ref_12","first-page":"306","article-title":"Dwarfism in the amish 1. The Ellis van Crevlad syndrome","volume":"115","author":"McKusick, V.A.; Egelund, J.A.; Eldridge, R.; Krusen, D.E.","year":"1964","unstructured":"McKusick, V. A., Egelund, J. A., Eldridge, R., and Krusen, D. E. (1964). Dwarfism in the amish 1. The Ellis van Crevlad syndrome. Bulletin ofthe Johns Hopkins Hospital, 115, 306-336.","journal-title":"Bulletin ofthe Johns Hopkins Hospital"},{"key":"ref_13","article-title":"Cited by McKusick","author":"Nievergelt, K.","year":"1964","unstructured":"Nievergelt, K. (1964). Cited by McKusick (1974)."},{"key":"ref_14","first-page":"63","article-title":"A new type of dwarfism with various bone aplasias and hypoplasia of the extremities","volume":"14","author":"Quelce-Salgado, A.","year":"1964","unstructured":"Quelce-Salgado, A. (1964). A new type of dwarfism with various bone aplasias and hypoplasia of the extremities. Acta Genetica et Statistica Medica, 14, 63-66.","journal-title":"Acta Genetica et Statistica Medica"},{"key":"ref_15","first-page":"948","article-title":"Spondylocostal dysplasia. A dominantly inherited form of short trunked dwarfism","volume":"45","author":"Rimoin, D.L.; Fletcher, B.D.; McKurick, V.A.","year":"1968","unstructured":"Rimoin, D. L., Fletcher, B. D.. and McKurick, V. A. (1968). 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(1968).","journal-title":"Journal de Ginitique Humaine"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.2.123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:17:07Z","timestamp":1760739427000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.2.123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1978,4,1]]},"published-print":{"date-parts":[[1978,4]]}},"alternative-id":["10.1136\/jmg.15.2.123"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.2.123","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,4]]}}}