{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:51:32Z","timestamp":1786121492008,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>The skeletal dysplasias pose a particular diagnostic challenge due to their rarity, phenotypic overlap, and the dynamic evolution of sonographic features across gestation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the relative prevalence of skeletal dysplasia (SD) and delineate antenatal ultrasound markers aiding diagnosis of SD in cases with short femur.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>The records of targeted ultrasound of fetuses with suspected SD from 2021 to 2025 were reviewed. Femur length was expressed as standard deviations below mean and associated visceral and skeletal abnormalities were recorded among diagnosed and undiagnosed cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 76 cases were fully followed; the mean gestational age was 28.2\u2009\u00b1\u20096.6\u2009weeks. Majority of the cases were detected in the late second or early third trimester. More than two\u2010third of them were suspected to have SD, whereas the rest were either FGR or constitutionally small fetus. The ultrasound findings guided us to distinguish FGR and constitutionally small fetuses from SD cases. It was a valuable tool in determining lethality. The molecular testing could be done in only one third of the suspected SD cases. Apart from ultrasound findings such as severely short femur, polydactyly, poor mineralization and fractures, the bending of femur, narrow thorax, micrognathia, and visceral anomalies helped in pinning the clinical diagnosis of SD in many cases. The FL\/AC and TC\/AC ratio individually had less sensitivity and high specificity for the prediction of lethality, but had 100% sensitivity for lethality prediction if both were abnormal. Fetal growth restriction was diagnosed in 17\/76 (22.4%), familial short stature in 4\/76 (5.3%). SD was suspected in 55\/76 (72.3%). Among them, the genetically diagnosed, clinically suspected, and undiagnosed cases were 19\/55 (34.5%), 24\/55 (43.6%), and 12\/55 (21.8%). Bent femur was most common anomaly (29\/55, 52.7%), followed by narrow thorax (20\/55, 36.4%). Renal anomaly was the commonest visceral anomaly (5\/55, 9.1%). The diagnosis of SD was made in 40\/76 (52.6%). Ciliopathies were the largest group (12\/40, 40%), followed by osteogenesis imperfecta (11\/40, 27.5%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The study highlights the importance of structured ultrasound assessment and pattern recognition in skeletal dysplasia along with genetic testing for improved clinical decision\u2010making and parental counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcu.70362","type":"journal-article","created":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T04:50:36Z","timestamp":1786078236000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Analysis of Fetal Short Femur: Characteristics That Influence Prenatal Diagnosis"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7472-2020","authenticated-orcid":false,"given":"Manisha","family":"Kumar","sequence":"first","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2971-7801","authenticated-orcid":false,"given":"Deepika","family":"Meena","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apoorva","family":"Kulshrestha","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9529-8134","authenticated-orcid":false,"given":"Shilpi","family":"Nain","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0280-9994","authenticated-orcid":false,"given":"Aakanksha","family":"Siwach","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3707-7530","authenticated-orcid":false,"given":"Ayushi","family":"Sinha","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1232-5016","authenticated-orcid":false,"given":"Anu","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0604-4162","authenticated-orcid":false,"given":"Vikas","family":"Chaudhary","sequence":"additional","affiliation":[{"name":"Department of Radiology Lady Hardinge Medical College (LHMC)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,6]]},"reference":[{"issue":"12","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision","volume":"167","author":"Bonafe L.","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6","key":"e_1_2_12_3_1","first-page":"545","article-title":"Role of Ultrasound and Molecular Testing in the Prenatal Diagnosis of Skeletal Dysplasias","volume":"34","author":"Borrell A.","year":"2014","journal-title":"Prenatal Diagnosis"},{"issue":"3","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/0002-9378(85)90298-4","article-title":"Estimation of Fetal Weight With the Use of Head, Body, and Femur Measurements\u2014A Prospective Study","volume":"151","author":"Hadlock F. P.","year":"1985","journal-title":"American Journal of Obstetrics and Gynecology"},{"issue":"5","key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/s41431-024-01776-8","article-title":"Genetic and Allelic Heterogeneity in 248 Indians With Skeletal Dysplasia","volume":"33","author":"Jacob P.","year":"2025","journal-title":"European Journal of Human Genetics"},{"issue":"6","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/GIM.0b013e3181daae9b","article-title":"The Skeletal Dysplasias","volume":"12","author":"Krakow D.","year":"2010","journal-title":"Genetics in Medicine"},{"issue":"1","key":"e_1_2_12_7_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1148\/radiology.177.1.2399317","article-title":"Usefulness of a Short Femur in the In\u2010Utero Detection of Skeletal Dysplasias","volume":"177","author":"Kurtz A. B.","year":"1990","journal-title":"Radiology"},{"issue":"8","key":"e_1_2_12_8_1","first-page":"768","article-title":"Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasound","volume":"380","author":"Lord J.","year":"2019","journal-title":"New England Journal of Medicine"},{"issue":"4","key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.ajog.2022.09.045","article-title":"Should We Offer Prenatal Exome Sequencing for Intrauterine Growth Restriction or Short Long Bones? A Systematic Review and Meta\u2010Analysis","volume":"228","author":"Mone F.","year":"2023","journal-title":"American Journal of Obstetrics and Gynecology"},{"issue":"12","key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision","volume":"179","author":"Mortier G. R.","year":"2019","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6","key":"e_1_2_12_11_1","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.7863\/ultra.33.6.1085","article-title":"Fetal Skeletal Dysplasias: Sonographic Indices Associated With Adverse Outcomes","volume":"33","author":"Nelson D. B.","year":"2014","journal-title":"Journal of Ultrasound in Medicine"},{"issue":"9","key":"e_1_2_12_12_1","first-page":"645","article-title":"Radiological Diagnosis of the Constitutional Disorders of Bone","volume":"58","author":"Offiah A. C.","year":"2003","journal-title":"Clinical Radiology"},{"issue":"9946","key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/S0140-6736(14)61490-2","article-title":"International Standards for Fetal Growth Based on Serial Ultrasound Measurements: The Fetal Growth Longitudinal Study of the INTERGROWTH\u201021st Project","volume":"384","author":"Papageorghiou A. T.","year":"2014","journal-title":"Lancet"},{"issue":"3","key":"e_1_2_12_14_1","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 B. V.","year":"2003","journal-title":"Journal of Ultrasound in Medicine"},{"issue":"1","key":"e_1_2_12_15_1","first-page":"115","article-title":"Fetal MRI in Skeletal Dysplasias","volume":"41","author":"Prayer D.","year":"2011","journal-title":"Pediatric Radiology"},{"issue":"2","key":"e_1_2_12_16_1","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/uog.1113","article-title":"Prenatal Diagnosis of Skeletal Dysplasias Using Two\u2010 and Three\u2010Dimensional Ultrasound and Fetal MRI","volume":"24","author":"Ruano R.","year":"2004","journal-title":"Ultrasound in Obstetrics & Gynecology"},{"issue":"1","key":"e_1_2_12_17_1","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/uog.8831","article-title":"ISUOG Practice Guidelines: Performance of the Routine Mid\u2010Trimester Fetal Ultrasound Scan","volume":"37","author":"Salomon L. J.","year":"2011","journal-title":"Ultrasound in Obstetrics & Gynecology"},{"issue":"1","key":"e_1_2_12_18_1","first-page":"50","article-title":"Antenatal Diagnosis of Skeletal Dysplasias","volume":"79","author":"Tretter A. E.","year":"1998","journal-title":"American Journal of Medical Genetics"},{"issue":"6","key":"e_1_2_12_19_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes14061203","article-title":"Diagnostic Yield of Exome Sequencing in Fetuses With Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review","volume":"14","author":"Tse K. Y.","year":"2023","journal-title":"Genes (Basel)"},{"issue":"5","key":"e_1_2_12_20_1","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","article-title":"Nosology of Genetic Skeletal Disorders: 2023 Revision","volume":"191","author":"Unger S.","year":"2023","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"2","key":"e_1_2_12_21_1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.4103\/jpgm.JPGM_527_17","article-title":"A Review of Skeletal Dysplasia Research in India","volume":"64","author":"Uttarilli A.","year":"2018","journal-title":"Journal of Postgraduate Medicine"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70362","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.70362","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T04:50:47Z","timestamp":1786078247000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.70362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,6]]},"references-count":20,"alternative-id":["10.1002\/jcu.70362"],"URL":"https:\/\/doi.org\/10.1002\/jcu.70362","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"value":"0091-2751","type":"print"},{"value":"1097-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,6]]},"assertion":[{"value":"2026-03-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jcu.70362"}}