{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:16:30Z","timestamp":1761822990891},"reference-count":40,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2007,5,7]],"date-time":"2007-05-07T00:00:00Z","timestamp":1178496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angulated or bent femur (isolated or associated with other long bone bowing) in the fetus or newborn is relatively common when evaluating patients with skeletal dysplasias. To determine the extent and heterogeneity of disorders associated with angulated or bent femurs, we analyzed cases in the radiographic database (1998\u20132006) of the International Skeletal Dysplasia Registry (ISDR) and determined which established skeletal dysplasias and genetic syndromes are associated with this finding. The results show that more than 40 distinct disorders with varying frequency (very rare to more commonly occuring disorders) can be associated with bowed\/bent\/angulated femurs. Sixty\u2010six percent of the cases with angulated femurs belonged to three well described groups of disorders; campomelic disorders (24.4%), thanatophoric dysplasia (23.9%) and osteogenesis imperfecta (OI) (18.1%). With specific emphasis on these, this cross\u2010sectional cohort provides discussion of data on other rare disorders associated with angulated femurs and the importance of the finding relative to its occurrence within a diagnostic group. This study aims to provide differential diagnosis of entities to be considered when a fetus or newborn is found to have congenital bowing\/angulation of the femur. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31711","type":"journal-article","created":{"date-parts":[[2007,5,7]],"date-time":"2007-05-07T20:46:43Z","timestamp":1178570803000},"page":"1159-1168","source":"Crossref","is-referenced-by-count":32,"title":["Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988\u20132006)"],"prefix":"10.1002","volume":"143A","author":[{"given":"Yasemin","family":"Alanay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,5,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1542\/peds.13.3.257","article-title":"Congenital bowing and angulation of long bones","volume":"13","author":"Angle CR","year":"1954","journal-title":"Pediatrics"},{"key":"e_1_2_6_3_1","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures","volume":"11","author":"Antley R","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1947.02030010557001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570422"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<146::AID-AJMG9>3.0.CO;2-M"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00307.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250416"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/381715"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00530.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10562"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2004.23.11.1511"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1983.tb09816.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050587"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1305"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441581"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80013-4"},{"key":"e_1_2_6_18_1","first-page":"93","article-title":"Heterogeneity in the campomelic syndromes: Long and short bone varieties","volume":"12","author":"Khajavi A","year":"1976","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975337"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110160023002"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20035"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140218"},{"key":"e_1_2_6_23_1","first-page":"1157","article-title":"The campomelic syndrome","volume":"79","author":"Maroteaux P","year":"1971","journal-title":"Presse Med"},{"key":"e_1_2_6_24_1","first-page":"285","article-title":"Dwarfism In The Amish. 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