{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:33Z","timestamp":1756339533410,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,9,8]]},"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this group of disorders. Short rib polydactyly syndrome (SRPS) types I\u2013IV are a group of rare congenital autosomal recessive types of SD.<\/jats:p>\n               <jats:p>We report a case of a non-consanguineous couple whose two successive pregnancies were diagnosed with multiple congenital anomalies in fetuses suggestive of lethal SD (likely SRPS type IV) at 24 and 19 weeks period of gestation, respectively. Pregnancy was terminated, and the whole exome sequencing of the abortus for genetic analysis in the second pregnancy confirmed an autosomal recessive type of short rib thoracic dysplasia-4 (SRTD-4) also called SRPS in homozygous condition. Our case is unique as it was also associated with cystic hygroma which is a rare association with SRPS\/SRTD-4.<\/jats:p>","DOI":"10.1136\/bcr-2022-251118","type":"journal-article","created":{"date-parts":[[2022,9,19]],"date-time":"2022-09-19T12:40:17Z","timestamp":1663591217000},"page":"e251118","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)"],"prefix":"10.1136","volume":"15","author":[{"given":"Shreya","family":"Das","sequence":"first","affiliation":[{"name":"Obstetrics and Gynaecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7788-2502","authenticated-orcid":false,"given":"Charu","family":"Sharma","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meenakshi","family":"Gothwal","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayan","family":"Tada","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,9,19]]},"reference":[{"key":"2025082709234668000_15.9.e251118.1","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1002\/ajmg.a.34189","article-title":"Fgfr3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases","volume":"155A","author":"Hatzaki","year":"2011","journal-title":"Am J Med Genet A"},{"key":"2025082709234668000_15.9.e251118.2","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/cga.12066","article-title":"Majewski syndrome (short-rib polydactyly syndrome type II): prenatal diagnosis and histological features of chondral growth plate, liver and kidneys","volume":"54","author":"Tonni","year":"2014","journal-title":"Congenit Anom"},{"key":"2025082709234668000_15.9.e251118.3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","author":"Huber","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082709234668000_15.9.e251118.4","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/jcu.20603","article-title":"Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: a case report","volume":"37","author":"Taori","year":"2009","journal-title":"J Clin Ultrasound"},{"key":"2025082709234668000_15.9.e251118.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140116"},{"key":"2025082709234668000_15.9.e251118.6","doi-asserted-by":"crossref","first-page":"123","DOI":"10.3109\/15513815.2012.681427","article-title":"Prenatal ultrasound and MRI diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation","volume":"32","author":"Tonni","year":"2013","journal-title":"Fetal Pediatr Pathol"},{"key":"2025082709234668000_15.9.e251118.7","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.tjog.2015.10.027","article-title":"Skeletal dysplasia with bowing long bones: proposed flowchart for prenatal diagnosis with case demonstration","volume":"55","author":"Tonni","year":"2016","journal-title":"Taiwan J Obstet Gynecol"},{"key":"2025082709234668000_15.9.e251118.8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0138314","article-title":"Use of targeted exome sequencing for molecular diagnosis of skeletal disorders","volume":"10","author":"Polla","year":"2015","journal-title":"PLoS One"},{"key":"2025082709234668000_15.9.e251118.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"2025082709234668000_15.9.e251118.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.003"},{"key":"2025082709234668000_15.9.e251118.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3558"},{"key":"2025082709234668000_15.9.e251118.12","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2025082709234668000_15.9.e251118.13","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082709234668000_15.9.e251118.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng.105"},{"key":"2025082709234668000_15.9.e251118.15","unstructured":"TTC21B tetratricopeptide repeat domain 21B gene data set. gene ID: 79809, 2022. Available: https:\/\/www.ncbi.nlm.nih.gov\/gene\/79809 [Accessed 15 May 2022]."},{"key":"2025082709234668000_15.9.e251118.16","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-251118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:23:53Z","timestamp":1756311833000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-251118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":16,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,9,19]]},"published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1136\/bcr-2022-251118"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-251118","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,9]]}}}