{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:23:03Z","timestamp":1791973383278,"version":"4.3.4"},"reference-count":80,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T00:00:00Z","timestamp":1242259200000},"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":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Erlenmeyer flask bone deformity (EFD) is a long\u2010standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di\u2010metaphysis with abnormal cortical thinning and lack of the concave di\u2010metaphyseal curve resulting in an Erlenmeyer flask\u2010like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988\u20132007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD\u2010T) resultant from absent normal di\u2010metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD\u2010T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia\u2010Engelmann type, metaphyseal dysplasia\u2010Pyle type, Melnick\u2013Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD\u2010A) due to absence of normal di\u2010metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD\u2010marrow expansion type (EFD\u2010ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32253","type":"journal-article","created":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T13:59:46Z","timestamp":1242309586000},"page":"1334-1345","source":"Crossref","is-referenced-by-count":68,"title":["The Erlenmeyer flask bone deformity in the skeletal dysplasias"],"prefix":"10.1002","volume":"149A","author":[{"given":"Maha A.","family":"Faden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,5,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1996.tb00091.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197759060-00014"},{"key":"e_1_2_6_4_1","first-page":"1521","article-title":"Familial metaphyseal dysplasia","volume":"53","author":"Bakwin H","year":"1937","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_5_1","first-page":"205","article-title":"Cytokines in Gaucher's disease","volume":"10","author":"Barak V","year":"1999","journal-title":"Eur Cytokine Netw"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4471-1292-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:CEMN.0000012721.08168.ee"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.146.2.245"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00003086-199309000-00006","article-title":"Autosomal dominant osteopetrosis","volume":"294","author":"Bollerslev J","year":"1993","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000182216"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1317"},{"key":"e_1_2_6_12_1","first-page":"326","article-title":"Bone changes in Gaucher disease","volume":"48","author":"Butora M","year":"1989","journal-title":"Z Rheumatol"},{"key":"e_1_2_6_13_1","first-page":"662","article-title":"Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori","volume":"6","author":"Camurati M","year":"1922","journal-title":"Chir Organi"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002770100354"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"e_1_2_6_16_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/3-540-30361-8","volume-title":"Abnormal skeletal phenotypes","author":"Castriota\u2010Scanderbeg A","year":"2005"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<191::AID-AJMG6>3.0.CO;2-K"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1927.04130210022002"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-195802000-00001"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110090124022"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mpo.1147"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.187.2.8475296"},{"key":"e_1_2_6_23_1","first-page":"309","article-title":"The lead line in bone\u2014A lesion apparently due to chondroclastic indigestion","volume":"80","author":"Eisenstein R","year":"1975","journal-title":"Am J Pathol"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.603"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.183.1.1549658"},{"key":"e_1_2_6_26_1","first-page":"1101","article-title":"Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis","volume":"39","author":"Engelmann G","year":"1929","journal-title":"Fortschr Geb Roentgenstr Nukl"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10560"},{"key":"e_1_2_6_28_1","first-page":"680","article-title":"Report of a case with Niemann\u2010Pick disease: Correlation of roentgenographic and autopsy findings","volume":"85","author":"Gildenhorn HL","year":"1961","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"e_1_2_6_29_1","first-page":"208","article-title":"The orthopedic aspects of Gaucher disease","volume":"137","author":"Goldblatt J","year":"1978","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100040489014"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80304-2"},{"key":"e_1_2_6_32_1","first-page":"79","article-title":"Genetic craniotubular bone dysplasia and hyperstoses; a critical analysis","volume":"4","author":"Gorlin RJ","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197052020-00017"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130112"},{"key":"e_1_2_6_35_1","first-page":"151","article-title":"Eine neue form der familiaren metaohysaren dysplasie","volume":"37","author":"Hohle B","year":"1982","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_6_36_1","first-page":"233","article-title":"Oto\u2010palato\u2010digital syndrome with features of type I and II in brothers","volume":"6","author":"Horn D","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-52-618-431"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001218)95:5<482::AID-AJMG14>3.0.CO;2-X"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1954.00250060005001"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.9784"},{"key":"e_1_2_6_41_1","volume-title":"Taybi and Lachman's radiology of syndromes, metabolic disorders and skeletal dysplasias","author":"Lachman RS","year":"2007"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1148\/108.3.659"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80586-9"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00243719"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1226792"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.197.86"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.blo.0000229364.57985.df"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00361370"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U"},{"key":"e_1_2_6_50_1","doi-asserted-by":"crossref","first-page":"392","DOI":"10.2106\/00004623-197860030-00022","article-title":"Frontometaphyseal dysplasia presenting as scoliosis","volume":"60","author":"Medlar RC","year":"1978","journal-title":"J Bone Joint Surg Am"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1053\/rmed.2000.0942"},{"key":"e_1_2_6_52_1","first-page":"115","article-title":"Autosomal malignant osteopetrosis. From diagnosis to therapy","volume":"56","author":"Mohn A","year":"2004","journal-title":"Minerva Pediatr"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30030"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0501-37"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb04307.x"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050107"},{"key":"e_1_2_6_57_1","first-page":"98","article-title":"Metaphyseal dysplasia with hemimelic distribution","volume":"39","author":"Polijvka D","year":"1972","journal-title":"Acta Chir Orthop Traumatol Cech"},{"key":"e_1_2_6_58_1","first-page":"874","article-title":"Case of unusual bone development","volume":"13","author":"Pyle E","year":"1931","journal-title":"J. Bone Joint Surg"},{"key":"e_1_2_6_59_1","first-page":"224","article-title":"Hereditary oculodentoosseous dysplasia","volume":"9","author":"Rajic DS","year":"1966","journal-title":"Ann Radiol"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201654"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.0.CO;2-I"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01895.x"},{"key":"e_1_2_6_64_1","first-page":"461","article-title":"Craniometaphyseal dysplasia","volume":"84","author":"Schwartz E","year":"1960","journal-title":"Am J Roentgenol"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-21-245-236"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-002-0200-4"},{"key":"e_1_2_6_67_1","first-page":"289","article-title":"The Archaeological survey of Nubia. Report for 1907\u20131908","volume":"2","author":"Smith GE","year":"1910","journal-title":"Cairo"},{"key":"e_1_2_6_68_1","first-page":"839","article-title":"Radiology of the autosomal dominant form of craniometaphyseal dysplasia","volume":"49","author":"Spiro PC","year":"1975","journal-title":"S Afr Med J"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1228480"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18003714509"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31257"},{"key":"e_1_2_6_72_1","first-page":"61","article-title":"Metaphyseal dysplasia, anetoderma and optic atrophy: An autosomal recessive syndrome","volume":"10","author":"Temtamy SA","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2005.07.006"},{"key":"e_1_2_6_74_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.99.3.712"},{"key":"e_1_2_6_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211508"},{"key":"e_1_2_6_77_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750002"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90501-X"},{"key":"e_1_2_6_79_1","volume-title":"A new syndrome of craniotubular dysplasia having diaphyseal and metaphyseal modeling defects and increase susceptibility to fracture","author":"Williams CA","year":"1988"},{"key":"e_1_2_6_80_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.01107.x"},{"key":"e_1_2_6_81_1","first-page":"111","article-title":"Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings","volume":"124","author":"Zackai EH","year":"1972","journal-title":"Am J Dis Child"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32253","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32253","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:28:41Z","timestamp":1697588921000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,14]]},"references-count":80,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1002\/ajmg.a.32253"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32253","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,14]]}}}