{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:49:59Z","timestamp":1792694999829,"version":"4.5.0"},"reference-count":57,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4567,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A new type of mesomelic dysplasia was in 3 generations of a large Thai family. It is characterized by bilateral symmetrical marked shortening of the ulnae and shortening and bowing of the radii. The proximal fibula is usually short and synostoses are present between the tibia and fibula and the small malformed calcaneus and talus. The prominent calcanei on the ventral surfaces of the distal fibulae are a characteristic feature of the new type. Carpal and tarsal synostoses are present in some affected people. All affected individuals walk on the tips of their toes with the dorsal foot deviated laterally. The deformities of the radius and ulna somewhat resemble those of mesomelic dysplasia, Langer type, but otherwise the condition is distinctly different.<\/jats:p><jats:p>This new mesomelic dysplasia is an autosomal dominant trait with complete penetrance and variable expressivity over 3 generations. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440606","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:38:31Z","timestamp":1118507911000},"page":"730-737","source":"Crossref","is-referenced-by-count":33,"title":["Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorder"],"prefix":"10.1002","volume":"44","author":[{"given":"Piranit N.","family":"Kantaputra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Leonard O.","family":"Langer","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":"crossref","first-page":"133","DOI":"10.1302\/0301-620X.61B2.438260","article-title":"Congenital deficiency of the fibula","volume":"61","author":"Achterman CA","year":"1979","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9610(41)90313-6"},{"key":"e_1_2_1_4_1","first-page":"875","article-title":"Chondroectodermal dysplasia (Ellis\u2010van Creveld disease). Report of three cases","volume":"68","author":"Caffey J","year":"1952","journal-title":"Am J Roentgenol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/88.3.479"},{"key":"e_1_2_1_6_1","first-page":"1260","article-title":"Carpal fusions","volume":"89","author":"Cockshott WP","year":"1963","journal-title":"Am J Roentgenol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/92.4.799"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(74)80068-1"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195234040-00021"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1302\/0301-620X.52B2.325","article-title":"Nievergelt\u2010Pearlman syndrome. Synostosis in feet and hands with dysplasia of elbows","volume":"52","author":"Dubois HJ","year":"1970","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80418-3"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330450206"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330340313"},{"key":"e_1_2_1_14_1","first-page":"396","article-title":"Zur Morphologie der Gliedmassen de Wirbelthiere","volume":"2","author":"Gegenbaur C","year":"1876","journal-title":"Morphol Jahrb"},{"key":"e_1_2_1_15_1","first-page":"409","article-title":"The radiological diagnosis of the fetal\u2010face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of three cases","volume":"30","author":"Giedion A","year":"1975","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.2106\/00004623-197759010-00026","article-title":"Naviculocuneiform coalition","volume":"59","author":"Gregersen HN","year":"1977","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_17_1","first-page":"1","article-title":"Aplasia and hypoplasia of the radius","volume":"39","author":"Heikel HVA","year":"1959","journal-title":"Acta Orthop Scand"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"979","DOI":"10.2106\/00004623-196951050-00015","article-title":"The antiquity of tarsal coalition","volume":"51","author":"Heiple KG","year":"1969","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_19_1","first-page":"1202","article-title":"Familiarer mesomeler Kleinwuchs (Nievergelt\u2010Syndrom)","volume":"108","author":"Hess OM","year":"1978","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-39-468-943"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/89.4.646"},{"key":"e_1_2_1_22_1","first-page":"94","article-title":"Mesomelic skeletal dysplasias","volume":"114","author":"Kaitila II","year":"1976","journal-title":"Clin Orthop"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00304671"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1302\/0301-620X.40B2.240","article-title":"The ball\u2010and\u2010socket ankle joint in metatarsus adductus varus: A congenital malformation","volume":"40","author":"Lamb D","year":"1958","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.95.1.178"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1148\/89.4.654"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1302\/0301-620X.56B3.520","article-title":"The inheritance of tarsal coalition and its relationship to spastic flat foot","volume":"56","author":"Leonard MA","year":"1974","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250626"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1302\/0301-620X.41B1.150","article-title":"Naviculocuneiform synostosis","volume":"41","author":"Lusby HLJ","year":"1959","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(75)80011-0"},{"key":"e_1_2_1_31_1","first-page":"256","article-title":"Naviculo\u2010cuneiform coalition. A report of two cases","volume":"196","author":"Miki T","year":"1985","journal-title":"Clin Orthop"},{"key":"e_1_2_1_32_1","first-page":"92","volume-title":"Radiologic and Histologic Pathology of Nontumorous Diseases of Bones and Joints","author":"Milgram JW","year":"1990"},{"key":"e_1_2_1_33_1","doi-asserted-by":"crossref","first-page":"467","DOI":"10.2106\/00004623-197658040-00006","article-title":"Ulnar dysmelia","volume":"58","author":"Ogden JA","year":"1976","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000890202"},{"key":"e_1_2_1_35_1","doi-asserted-by":"crossref","first-page":"626","DOI":"10.2106\/00004623-195335030-00010","article-title":"A survey of carpal and tarsal anomalies","volume":"35","author":"O'Rahilly R","year":"1953","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_36_1","first-page":"9","article-title":"Developmental deviations in carpus and tarsus","volume":"10","author":"O'Rahilly R","year":"1957","journal-title":"Clin Orthop"},{"key":"e_1_2_1_37_1","first-page":"85","volume-title":"Prevention of Physical and Mental Congenital Defects, Part C: Basic and Medical Science, Education, and Future Strategies","author":"O'Rahilly R","year":"1985"},{"key":"e_1_2_1_38_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0030-5898(20)32188-X","article-title":"Congential defects of the fibula","volume":"3","author":"Pappas AM","year":"1972","journal-title":"Orthop Clin North Am"},{"key":"e_1_2_1_39_1","first-page":"1106","article-title":"Congenital absence of the ulna","volume":"57","author":"Pardini AG","year":"1967","journal-title":"J Iowa Med Soc"},{"key":"e_1_2_1_40_1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.2106\/00004623-196446030-00015","article-title":"Familial tarsal and carpal synostosis with radial\u2010head subluxation (Nievergelt's syndrome)","volume":"46","author":"Pearlman HS","year":"1964","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1177\/107110078800900108"},{"key":"e_1_2_1_42_1","volume-title":"The Hand in Radiologic Diagnosis","author":"Poznanski AK","year":"1984"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1148\/10.1148\/94.1.45"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.112.3.443"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.104.4.899"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197052020-00021"},{"key":"e_1_2_1_47_1","first-page":"1","article-title":"Naviculo\u2010cuneiform coalition\u2010report of three cases","volume":"64","author":"Sato K","year":"1990","journal-title":"Nippon Seikeigeka Gakkai Zasshi"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1401080304"},{"key":"e_1_2_1_49_1","first-page":"55","article-title":"Fetal face syndrome with acral dysostosis","volume":"29","author":"Schinzel A","year":"1974","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_50_1","first-page":"500","volume-title":"Caffey's Pediatric X\u2010ray Diagnosis","author":"Silverman F","year":"1985"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-196909000-00018"},{"key":"e_1_2_1_52_1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1097\/00003086-198312000-00006","article-title":"The relative incidence of tarsal coalition","volume":"181","author":"Stormont DM","year":"1983","journal-title":"Clin Orthop"},{"key":"e_1_2_1_53_1","volume-title":"The Genetics of Hand Malformations","author":"Temtamy SA","year":"1978"},{"issue":"3","key":"e_1_2_1_53_2","first-page":"95","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-50966-7"},{"key":"e_1_2_1_55_1","first-page":"149","article-title":"The growth of the hindlimb bud of Xenopus laevis and its dependence upon the epidermis","volume":"91","author":"Tschumi PA","year":"1957","journal-title":"J Anat"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1177\/107110078400500203"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.7547\/87507315-78-7-355"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440606","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T13:35:54Z","timestamp":1698154554000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,12]]},"references-count":57,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,12]]}},"alternative-id":["10.1002\/ajmg.1320440606"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440606","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,12]]}}}