{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,22]],"date-time":"2024-12-22T11:10:01Z","timestamp":1734865801677,"version":"3.32.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T00:00:00Z","timestamp":1104969600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Radiol"],"published-print":{"date-parts":[[2005,6]]},"DOI":"10.1007\/s00247-004-1375-5","type":"journal-article","created":{"date-parts":[[2005,1,5]],"date-time":"2005-01-05T09:07:13Z","timestamp":1104916033000},"page":"641-646","source":"Crossref","is-referenced-by-count":3,"title":["Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia"],"prefix":"10.1007","volume":"35","author":[{"given":"Friederike","family":"K\u00f6rber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eckard","family":"Sch\u00f6nau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Eldad","family":"Horwitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Benz-Bohm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,1,6]]},"reference":[{"key":"1375_CR1","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1001\/archpedi.1947.02030010557001","volume":"74","author":"J Caffey","year":"1947","unstructured":"Caffey J (1947) Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in the arms and legs; a congenital syndrome of mechanical origin. Am J Dis Child 74:543\u2013562","journal-title":"Am J Dis Child"},{"key":"1375_CR2","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/01241398-198505020-00001","volume":"5","author":"A Kalamchi","year":"1985","unstructured":"Kalamchi A, Cowell HR, Kyung IK (1985) Congenital deficiency of the femur. J Pediatr Orthop 5:129\u2013134","journal-title":"J Pediatr Orthop"},{"key":"1375_CR3","first-page":"499","volume":"66","author":"D Keskin","year":"2000","unstructured":"Keskin D, Karsan EO (2000) Congenital bilateral short femur complicated by stress fracture. A case report. Acta Orthop Belg 66:499\u2013501","journal-title":"Acta Orthop Belg"},{"key":"1375_CR4","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0003-3995(00)01020-0","volume":"43","author":"W Courtens","year":"2000","unstructured":"Courtens W, De Laet C, Ziereisen F, et al (2000) Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes. Ann Genet 43:81\u201388","journal-title":"Ann Genet"},{"key":"1375_CR5","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.1320510206","volume":"51","author":"ML Martinez-Frias","year":"1994","unstructured":"Martinez-Frias ML (1994) Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies. Am J Med Gen 51:108\u2013113","journal-title":"Am J Med Gen"},{"key":"1375_CR6","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/BF00146367","volume":"8","author":"MA Ramos-Arroyo","year":"1992","unstructured":"Ramos-Arroyo MA, Rodriguez-Pinilla E, Cordero JF (1992) Maternal diabetes: the risk for specific birth defects. Eur J Epidemiol 8:503\u2013508","journal-title":"Eur J Epidemiol"},{"key":"1375_CR7","first-page":"68","volume":"24","author":"FE Struwe","year":"1984","unstructured":"Struwe FE, Reinwein H, Stier R (1984) Coumarin embryopathy (in German). Der Radiologe 24:68\u201371","journal-title":"Der Radiologe"},{"key":"1375_CR8","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1136\/jmg.28.1.10","volume":"28","author":"KD MacDermot","year":"1991","unstructured":"MacDermot KD, Winter RM, Wigglesworth JS, et al (1991) Short stature\/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. J Med Genet 28:10\u201317","journal-title":"J Med Genet"},{"key":"1375_CR9","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/ajmg.1320470728","volume":"47","author":"LA Moore","year":"1993","unstructured":"Moore LA, Moore CA, Smith JA, et al (1993) Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia. Am J Med Gen 47:1072\u20131077","journal-title":"Am J Med Gen"},{"key":"1375_CR10","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1399-0004.1986.tb01243.x","volume":"29","author":"S Kapur","year":"1986","unstructured":"Kapur S, Van Vloten A (1986) Isolated congenital bowed long bones. Clin Genet 29:165\u2013167","journal-title":"Clin Genet"},{"key":"1375_CR11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<107::AID-AJMG1>3.0.CO;2-V","volume":"70","author":"D Kumar","year":"1997","unstructured":"Kumar D, Duggan MB, Mueller RF, et al (1997) Familial aplasia\/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi and Raas-Rothschild. Am J Med Gen 70:107\u2013113","journal-title":"Am J Med Gen"},{"key":"1375_CR12","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1136\/adc.34.178.516","volume":"34","author":"AD Bain","year":"1959","unstructured":"Bain AD, Barrett HS (1959) Congenital bowing of the long bones. Report of a case. Arch Dis Child 34:516\u2013524","journal-title":"Arch Dis Child"},{"key":"1375_CR13","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1016\/S0140-6736(71)91762-4","volume":"I","author":"AD Bain","year":"1971","unstructured":"Bain AD, Barrett HS (1971) Congenital bowing of the long bones. Lancet I:1244","journal-title":"Lancet"},{"key":"1375_CR14","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/BF00515043","volume":"98","author":"F Rath","year":"1967","unstructured":"Rath F, Thalhammer O (1967) Prenatal bowing of the long tubular bones (in German). Z Kinderheilkd 98:63\u201374","journal-title":"Z Kinderheilkd"},{"key":"1375_CR15","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S0140-6736(71)92666-3","volume":"2","author":"A Stueve","year":"1971","unstructured":"Stueve A, Wiedemann HR (1971) Congenital bowing of the long bones in two sisters. Lancet 2:495","journal-title":"Lancet"},{"key":"1375_CR16","first-page":"1157","volume":"79","author":"P Maroteaux","year":"1971","unstructured":"Maroteaux P, Spranger J, Opitz JM, et al (1971) The campomelic syndrome (in French). Presse M\u00e9d 79:1157\u20131162","journal-title":"Presse M\u00e9d"},{"key":"1375_CR17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/tera.1420350102","volume":"35","author":"GI Lazjuk","year":"1987","unstructured":"Lazjuk GI, Shved IA, Cherstvoy ED, et al (1987) Campomelic syndrome: concepts of the bowing and shortening in the lower limbs. Teratology 35:1\u20138","journal-title":"Teratology"},{"key":"1375_CR18","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/ajmg.1320140218","volume":"14","author":"RN Maclean","year":"1983","unstructured":"Maclean RN, Prater WK, Lozzio CB (1983) Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Gen 14:373\u2013380","journal-title":"Am J Med Gen"},{"key":"1375_CR19","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/ajmg.1320410208","volume":"41","author":"AH Lipson","year":"1991","unstructured":"Lipson AH, Kozlowski K, Barylak A, et al (1991) Syndrome of tight-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Gen 41:176\u2013179","journal-title":"Am J Med Gen"},{"key":"1375_CR20","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1055\/s-2004-817628","volume":"176","author":"R Langer","year":"2004","unstructured":"Langer R, Al-Gazali L, Haas D, et al (2004) Osseous abnormalities and CT findings in Stueve-Wiedemann syndrome (SWS) (in German). RoFo 176:203\u2013221","journal-title":"RoFo"},{"key":"1375_CR21","first-page":"397","volume":"11","author":"R Antley","year":"1975","unstructured":"Antley R, Bixler D (1975) Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:397\u2013401","journal-title":"Birth Defects Orig Artic Ser"},{"key":"1375_CR22","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s00247-003-1066-7","volume":"34","author":"ME Hurley","year":"2004","unstructured":"Hurley ME, White MJ, Green AJ, et al (2004) Antley-Bixler syndrome with radioulnar synostosis. Pediatr Radiol 34:148\u2013151","journal-title":"Pediatr Radiol"},{"key":"1375_CR23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.1320150103","volume":"15","author":"CS Houston","year":"1983","unstructured":"Houston CS, Opitz JM, Spranger JW, et al (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Gen 15:3\u201328","journal-title":"Am J Med Gen"},{"key":"1375_CR24","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1148\/13.4.362","volume":"13","author":"H Snure","year":"1929","unstructured":"Snure H (1929) Intrauterine fracture. Radiology 13:362","journal-title":"Radiology"},{"key":"1375_CR25","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00988658","volume":"5","author":"RM Fisher","year":"1976","unstructured":"Fisher RM, Cremin BJ (1976) Limb defects in the amniotic band syndrome. Pediat Radiol 5:24\u201329","journal-title":"Pediat Radiol"},{"key":"1375_CR26","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1542\/peds.13.3.257","volume":"13","author":"CR Angle","year":"1954","unstructured":"Angle CR (1954) Congenital bowing and angulation of long bones. Pediatrics 13:257\u2013268","journal-title":"Pediatrics"},{"key":"1375_CR27","first-page":"401","volume":"41","author":"DS Middleton","year":"1934","unstructured":"Middleton DS (1934) Studies on prenatal lesions of striated muscle as a cause of congenital deformity. Edinb Med J 41:401","journal-title":"Edinb Med J"},{"key":"1375_CR28","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1001\/archpedi.1958.02060050307013","volume":"95","author":"TJ Conway","year":"1958","unstructured":"Conway TJ (1958) Prenatal bowing and angulation of long bones: a description of its occurrence in a brother and a sister. Am J Dis Child 95:305\u2013308","journal-title":"Am J Dis Child"},{"key":"1375_CR29","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1097\/00003086-198207000-00021","volume":"167","author":"SI Roth","year":"1982","unstructured":"Roth SI, Jimenez JF, Husted S, et al (1982) The histopathology of camptomelia (bent limbs). A Dyschondrogenesis. Clin Orthop 167:152\u2013159","journal-title":"Clin Orthop"},{"key":"1375_CR30","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/BF02386595","volume":"17","author":"UE Pazzaglia","year":"1987","unstructured":"Pazzaglia UE, Beluffi G (1987) Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories. Pediatr Radiol 17:50\u201355","journal-title":"Pediatr Radiol"},{"key":"1375_CR31","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1302\/0301-620X.34B4.646","volume":"34B","author":"PK Duraiswami","year":"1952","unstructured":"Duraiswami PK (1952) Experimental causation of congenital skeletal defects and its significance in orthopaedic surgery. J Bone Joint Surg 34B:646","journal-title":"J Bone Joint Surg"},{"key":"1375_CR32","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1136\/bmj.2.4675.384","volume":"2","author":"PK Duraiswami","year":"1950","unstructured":"Duraiswami PK (1950) Insulin-induced skeletal abnormalities in developing chickens. Br Med J 2:384","journal-title":"Br Med J"},{"key":"1375_CR33","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/tera.1420050112","volume":"5","author":"BK Hall","year":"1972","unstructured":"Hall BK (1972) Skeletal defects in embryonic chicks induced by administration of Beta-Aminopropionitrile. Teratology 5:81\u201388","journal-title":"Teratology"},{"key":"1375_CR34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/tera.1420330102","volume":"33","author":"H Nogami","year":"1986","unstructured":"Nogami H, Oohira A, Kuroyanagi M, et al (1986) Congenital bowing of long bones: clinical and experimental study. Teratology 33:1\u20137","journal-title":"Teratology"},{"key":"1375_CR35","first-page":"1028","volume":"57","author":"C Kwok","year":"1995","unstructured":"Kwok C, Weller PA, Guioli S, et al (1995) Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57:1028\u20131036","journal-title":"Am J Hum Genet"},{"key":"1375_CR36","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/1096-8628(20010115)98:2<176::AID-AJMG1027>3.0.CO;2-Q","volume":"98","author":"J Giordano","year":"2001","unstructured":"Giordano J, Prior HM, Bamforth JS, et al (2001) Genetic study of SOX9 in a case of campomelic dysplasia. Am J Med Genet 98:176\u2013181","journal-title":"Am J Med Genet"},{"key":"1375_CR37","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng0697-174","volume":"16","author":"DM Bell","year":"1997","unstructured":"Bell DM, Leung KK, Wheatley SC, et al (1997) SOX9 directly regulates the type-II collagen gene. Nat Genet 16:174\u2013178","journal-title":"Nat Genet"},{"key":"1375_CR38","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/pd.1970091102","volume":"9","author":"M Cordone","year":"1989","unstructured":"Cordone M, Lituania M, Zympatti C, et al (1989) In utero ultrasonographic features of campomelic dysplasia. Prenatal Diagn 9:745\u2013750","journal-title":"Prenatal Diagn"},{"key":"1375_CR39","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1148\/radiographics.10.2.2183297","volume":"10","author":"BA Spirt","year":"1990","unstructured":"Spirt BA, Oliphant M, Gottlieb RH, et al (1990) Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach. RadioGraphics 10:217\u2013236","journal-title":"RadioGraphics"}],"container-title":["Pediatric Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-004-1375-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00247-004-1375-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-004-1375-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,22]],"date-time":"2024-12-22T10:37:13Z","timestamp":1734863833000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00247-004-1375-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,6]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["1375"],"URL":"https:\/\/doi.org\/10.1007\/s00247-004-1375-5","relation":{},"ISSN":["0301-0449","1432-1998"],"issn-type":[{"type":"print","value":"0301-0449"},{"type":"electronic","value":"1432-1998"}],"subject":[],"published":{"date-parts":[[2005,1,6]]}}}