{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T00:42:40Z","timestamp":1775263360076,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T00:00:00Z","timestamp":1664323200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2022,9,28]]},"abstract":"<jats:p>Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2nd and 3rd-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.<\/jats:p>","DOI":"10.1155\/2022\/3056324","type":"journal-article","created":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T21:05:19Z","timestamp":1664399119000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9836-2717","authenticated-orcid":true,"given":"Lamidi","family":"Audu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Child Health, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Gambo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tokan Silas","family":"Baduku","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilkisu","family":"Farouk","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anisa","family":"Yahaya","sequence":"additional","affiliation":[{"name":"Department of Radiology, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kefas","family":"Jacob","sequence":"additional","affiliation":[{"name":"Department of Radiology, Barau Dikko Teaching Hospital, Kaduna State University, Kaduna, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.243"},{"key":"2","article-title":"What is the gene that causes thanatophoric dysplasia? ThinkGenetic","year":"2022"},{"key":"3","article-title":"Thanatophoric dysplasia","author":"G. L. Defendi","year":"2022"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13927"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32485"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.18203\/2320-1770.ijrcog20190319"},{"issue":"3","key":"7","first-page":"65","article-title":"A case Of thanatophoric dysplasia type I: The first clinicopathologic report from Ethiopia Ethiopian","volume":"10","author":"B. Dereje","year":"2018","journal-title":"Journal of Reproductive Health (EJRH)"},{"key":"8","volume-title":"Thanatophoric Dysplasia","author":"T. French","year":"2004"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03837-y"},{"key":"10","doi-asserted-by":"crossref","DOI":"10.1186\/s12884-019-2242-6","article-title":"Women who have not utilized health facility for delivery in Nigeria: who are they and where do they live?","volume":"19","author":"S. T. Adedokun","year":"2019","journal-title":"BMC Pregnancy and Childbirth"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/9940063"},{"issue":"3","key":"12","doi-asserted-by":"crossref","first-page":"277","DOI":"10.4314\/njp.v47i3.14","article-title":"Thanatophoric Dysplasia type 1as seen in a tertiary institution in South-East Nigeria","volume":"47","author":"O. W. Daniyan","year":"2020","journal-title":"Nigerian Journal of Paediatrics"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.7196\/sajch.490"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-019-02883-x"},{"issue":"1","key":"15","first-page":"61","article-title":"Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin","volume":"26","author":"V. M. Salinas-Torres","year":"2015","journal-title":"Genetic Counseling"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420125"},{"issue":"3","key":"17","first-page":"114","article-title":"The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland\u2014a complete population study","volume":"79","author":"D. E. Donnelly","year":"2010","journal-title":"Ulster Medical Journal"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1089\/pmr.2020.0016"},{"key":"19","article-title":"Achondrogenesis: definition, causes, diagnosis, and more (medicalnewstoday.Com)","author":"Z. Villines","year":"2022"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61090-3"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/3056324.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/3056324.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/3056324.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T21:05:41Z","timestamp":1664399141000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/cripe\/2022\/3056324\/"}},"subtitle":[],"editor":[{"given":"Maria","family":"Moschovi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,9,28]]},"references-count":20,"alternative-id":["3056324","3056324"],"URL":"https:\/\/doi.org\/10.1155\/2022\/3056324","relation":{},"ISSN":["2090-6811","2090-6803"],"issn-type":[{"value":"2090-6811","type":"electronic"},{"value":"2090-6803","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9,28]]}}}