{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T22:46:45Z","timestamp":1784933205335,"version":"3.55.0"},"reference-count":18,"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":7124,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found to have severely short (&lt; 3rd centile), mildly bowed bones in one of them at 20 weeks and straight bones in the other at 34 weeks; bell\u2010shaped chest; abnormal ribs (broadened and flattened at their ends); severe lung hypoplasia; hypoplastic, round\u2010shaped vertebral bodies with hypoplastic arches; abnormally small pelvic bones, phalanges, metacarpals, and metatarsals. There was also an incipient \u201ccloverleaf\u201d skull deformity produced by fused posterior sagittal and lambdoidal sutures in the 20\u2010week fetus and a definitive cloverleaf skull with communicating hydrocephaly in the 34\u2010week fetus. The autopsies did not show any other abnormality. By xeroradiography after delivery, marked abnormalities of the endochondral and perichondral bone structures could be demonstrated in the 20\u2010week fetus but not in the 34\u2010week fetus. They appear to constitute two different conditions. These cases are good examples of the possibilities brought by ultrasound to the analysis of the fetal phenotype in utero.<\/jats:p>","DOI":"10.1002\/ajmg.1320220404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:01:11Z","timestamp":1118520071000},"page":"669-683","source":"Crossref","is-referenced-by-count":29,"title":["Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis"],"prefix":"10.1002","volume":"22","author":[{"given":"B. Rafael","family":"Elejalde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Mercedes","family":"De Elejalde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","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\/jcu.1870120111"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.112.1.198"},{"key":"e_1_2_1_4_1","first-page":"81","volume-title":"Ultrasonography in Obstetrics and Gynecology","author":"Cooperberg P","year":"1983"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/124.2.479"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140215"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210305"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(85)90161-9"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210304"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.138.3.7465842"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420300103"},{"key":"e_1_2_1_12_1","first-page":"191","volume-title":"The Principles and Practice of Ultrasonography in Obstetrics and Gynecology","author":"Hobbins JD","year":"1980"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197708042970507"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(81)90423-3"},{"key":"e_1_2_1_15_1","first-page":"949","volume-title":"Mendelian Inheritance in Man. 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