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Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with \u201ctelephone\u2010receiver\u201d femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.<\/jats:p>","DOI":"10.1002\/ajmg.1320420125","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:06Z","timestamp":1118550786000},"page":"122-126","source":"Crossref","is-referenced-by-count":19,"title":["Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings"],"prefix":"10.1002","volume":"42","author":[{"given":"Giovanni","family":"Corsello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiliano","family":"Maresi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liborio","family":"Giuffr\u00e8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Cittadini","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":"10.1002\/ajmg.1320320411"},{"key":"e_1_2_1_3_1","first-page":"181","article-title":"\u00c9tude g\u00e9n\u00e9tique du nanisme thanatophore","volume":"17","author":"Bouvet J\u2010P","year":"1974","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","first-page":"441","volume-title":"Skeletal Dysplasias","author":"Camera G","year":"1982"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220205"},{"key":"e_1_2_1_6_1","first-page":"435","article-title":"Une malformation c\u00e9r\u00e9bral particuli\u00e8re associ\u00e9e au nanisme thanatophore","volume":"125","author":"Gouti\u00e8res F","year":"1971","journal-title":"Rev Neurol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150113"},{"key":"e_1_2_1_8_1","first-page":"896","article-title":"Thanatophoric dysplasia with cloverleaf skull","volume":"137","author":"Isaacson G","year":"1983","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330420"},{"key":"e_1_2_1_10_1","first-page":"2519","article-title":"Le nanisme thanatophore","volume":"49","author":"Maroteaux P","year":"1967","journal-title":"Presse M\u00e9d"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.46.249.656"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)92066-2"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170322"},{"key":"e_1_2_1_14_1","first-page":"860","article-title":"Morphological studies in the skeletal dysplasias","volume":"96","author":"Sillence DO","year":"1979","journal-title":"Am J Pathol"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340117"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01241.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02912.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/j.1399-0004.1987.tb03161.x","article-title":"A boy with thanatophoric dysplasia surviving 212 days","volume":"30","author":"Tonoki H","year":"1987","journal-title":"Clin Genet"},{"key":"e_1_2_1_19_1","first-page":"200","volume-title":"Mental Retardation and Congenital Malformations of the Central Nervous system","author":"Warkany J","year":"1981"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.4.276"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420125","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:49:23Z","timestamp":1698068963000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/ajmg.1320420125"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420125","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}