{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:37:36Z","timestamp":1787071056129,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T00:00:00Z","timestamp":1693612800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:p>Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed.<\/jats:p>","DOI":"10.4103\/jmu.jmu_20_23","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T07:00:13Z","timestamp":1704265213000},"page":"341-344","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Thanatophoric Dysplasia \u2013 Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound"],"prefix":"10.4103","volume":"32","author":[{"given":"Ranjit Singh","family":"Lahel","sequence":"first","affiliation":[{"name":"Department of Radiodiagnosis, MH Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangeet","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, MH Amritsar, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh Kumar","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, MH Amritsar, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,9,2]]},"reference":[{"key":"R1-20260724","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/pd.4066","article-title":"Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA","volume":"33","author":"Chitty","year":"2013","journal-title":"Prenat Diagn"},{"key":"R2-20260724","first-page":"D01","article-title":"Thanatophoric dysplasia: A case report","volume":"9","author":"Sharma","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"R3-20260724","doi-asserted-by":"crossref","first-page":"196","DOI":"10.5001\/omj.2011.47","article-title":"Thanatophoric dysplasia: A rare entity","volume":"26","author":"Naveen","year":"2011","journal-title":"Oman Med J"},{"key":"R4-20260724","doi-asserted-by":"crossref","first-page":"255","DOI":"10.7863\/jum.2003.22.3.255","article-title":"Antenatal detection of skeletal dysplasias","volume":"22","author":"Parilla","year":"2003","journal-title":"J Ultrasound Med"},{"key":"R5-20260724","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00404-002-0417-1","article-title":"Prenatal diagnosis of thanatophoric dysplasia in the second trimester: Ultrasonography and other diagnostic modalities","volume":"269","author":"Sahinoglu","year":"2003","journal-title":"Arch Gynecol Obstet"},{"key":"R6-20260724","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1002\/ajmg.1320330420","article-title":"Growth and development in thanatophoric dysplasia","volume":"33","author":"MacDonald","year":"1989","journal-title":"Am J Med Genet"},{"key":"R7-20260724","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1046\/j.1469-0705.1996.08010062.x","article-title":"Antenatal sonographic diagnosis of thanatophoric dysplasia: A report of three cases and a review of the literature with special emphasis on the differential diagnosis","volume":"8","author":"Schild","year":"1996","journal-title":"Ultrasound Obstet Gynecol"},{"key":"R8-20260724","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ajmg.1320220404","article-title":"Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis","volume":"22","author":"Elejalde","year":"1985","journal-title":"Am J Med Genet"},{"key":"R9-20260724","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1440-1673.1987.tb01838.x","article-title":"Cloverleaf skull and bone dysplasias (report of four cases)","volume":"31","author":"Kozlowski","year":"1987","journal-title":"Australas Radiol"},{"key":"R10-20260724","first-page":"275","article-title":"Case report of Thanatophoric dysplasia: A lethal skeletal dysplasia","volume":"2","year":"2013","journal-title":"J Dr NTR Univ Health Sci"}],"container-title":["Journal of Medical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_20_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:40:50Z","timestamp":1787067650000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_20_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,2]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/jmu.jmu_20_23","relation":{},"ISSN":["0929-6441","2212-1552"],"issn-type":[{"value":"0929-6441","type":"print"},{"value":"2212-1552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,2]]},"assertion":[{"value":"2023-03-04","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-08","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}