{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T22:49:23Z","timestamp":1773614963827,"version":"3.50.1"},"reference-count":72,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T00:00:00Z","timestamp":1506384000000},"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":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia\u2010unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and\/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array\u2010CGH and exome\/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38420","type":"journal-article","created":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T05:11:27Z","timestamp":1506402687000},"page":"2923-2946","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review"],"prefix":"10.1002","volume":"173","author":[{"given":"Marion","family":"Luisin","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Chevreau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital of Amiens CHU Amiens Sud Amiens France"},{"name":"INSERM UMR 1105, GRAMFC, Groupe de Recherches sur l'Analyse Multimodale de la Fonction C\u00e9r\u00e9brale Picardie Jules Verne University CHU Amiens Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedic Surgery University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Naepels","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"Demeer","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le","family":"Mathieu\u2010Dramard","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5704-6830","authenticated-orcid":false,"given":"Guillaume","family":"Jedraszak","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital of Amiens CHU Amiens Sud Amiens France"},{"name":"INSERM U1088 Picardie Jules Verne University CHU Amiens Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Gondry\u2010Jouet","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Gondry","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital of Amiens CHU Amiens Sud Amiens France"},{"name":"INSERM UMR 1105, GRAMFC, Groupe de Recherches sur l'Analyse Multimodale de la Fonction C\u00e9r\u00e9brale Picardie Jules Verne University CHU Amiens Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Dieux\u2010Coeslier","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Jeanne de Flandre University Hospital CHRU de Lille Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilles","family":"Morin","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital of Amiens CHU Amiens Sud Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,26]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1","article-title":"Femoral\u2010facial syndrome in an infant of a diabetic mother","author":"Ahmed S.","year":"2015","journal-title":"BMJ Case Report"},{"key":"e_1_2_9_3_1","first-page":"351","article-title":"Femoral hypoplasia\u2010unusual facies syndrome with renal agenesis and patent ductus arteriosus","volume":"24","author":"Aksoy H. T.","year":"2013","journal-title":"Genetic Counseling"},{"key":"e_1_2_9_4_1","first-page":"365","article-title":"Femoral hypoplasia\u2010unusual facies syndrome in a black African infant","volume":"22","author":"Alao M. J.","year":"2011","journal-title":"Genetic Counseling"},{"key":"e_1_2_9_5_1","first-page":"32","article-title":"Prenatal ultrasonographic diagnosis of bilateral proximal femoral focal deficiency with clef lip and cleft palate: Femoral hypoplasia\/unusual facial syndrome","volume":"2","author":"Apte A. V.","year":"2016","journal-title":"Journal of Research in Radiodiagnosis, Teleradiology and Imaging"},{"key":"e_1_2_9_6_1","first-page":"489","article-title":"Syndrome of phocomelic diabetic embryopathy (caudal dysplasia)","volume":"123","author":"Assemany S. R.","year":"1972","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992287000901114"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00006"},{"key":"e_1_2_9_9_1","first-page":"473","article-title":"Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities","volume":"36","author":"Burck U.","year":"1981","journal-title":"Clinical and Radiological Findings"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.331"},{"key":"e_1_2_9_11_1","first-page":"359","article-title":"A provisionally unique syndrome with features including \u201cmolar tooth\u201d sign and \u201cfemoral hypoplasia","volume":"20","author":"Caglayan A. O.","year":"2009","journal-title":"Genetic Counseling"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<315::AID-AJMG12>3.0.CO;2-W"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22034"},{"key":"e_1_2_9_14_1","unstructured":"Chalbaud G. Diaz Guerrero L. Sosa Olavarria A. &Padilla G.(2003). Femoral hypoplasia\u2010unusual facies syndrome. \u00a9Chalbaudhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_15_1","unstructured":"Crum A.(1994). Femoral hypoplasia\u2010unusual facies syndrome. \u00a9Crumhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_16_1","unstructured":"Cuillier F.(2004). Femoral hypoplasia\u2010unusual facies syndrome. \u00a9Cuillierhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_17_1","unstructured":"Cuillier F. Carasset G. Lemaire P. Deshayes M. &Alessandri J. L.(2005). Femoral\u2010facial syndrome. \u00a9Cuillierhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_18_1","unstructured":"Cuillier F. De Gery M. D. &Siboud M.(2006). Femoral\u2010facial syndrome. \u00a9Cuillierhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80718-9"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818609068843"},{"key":"e_1_2_9_21_1","first-page":"324","article-title":"The femoral hypoplasia syndrome and unusual facies in an infant of a diabetic mother","volume":"113","author":"Dumic M.","year":"1991","journal-title":"Liec Vjesn"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200401000-00012"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04130.x"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767050902994606"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2004.23.11.1511"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rchipe.2015.08.005"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1996.02170320107019"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.518"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496920"},{"key":"e_1_2_9_30_1","first-page":"386","article-title":"Bilateral femoral dysgenesis syndrome: A case report","volume":"15","author":"Goldberg R. B.","year":"1978","journal-title":"Cleft Palate Journal"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.5.390"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-011-0650-3"},{"key":"e_1_2_9_33_1","first-page":"68","article-title":"Femoral facial syndrome in a child of a mother with gestational diabetes","volume":"3","author":"Herreros M. B.","year":"2005","journal-title":"Memorias del Instituto de Investigaciones en Ciencias de la Salud"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994383"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32830866cd"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80883-3"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.3329\/jbcps.v33i4.28148"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9592.2002.00846.x"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80013-4"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.4097\/kjae.2013.65.6S.S89"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1177\/8756479306293298"},{"key":"e_1_2_9_42_1","first-page":"205","article-title":"Femoral hipoplazi ve de\u011fi\u015fik y\u00fcz g\u00f6r\u00fcn\u00fcm\u00fc sendromu: Bir vaka takdimi","volume":"47","author":"Korkmaz A.","year":"2004","journal-title":"Cocuk Saghgt ve Hastahklari Dergisi"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00144.x"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0899-7071(02)00496-5"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.230"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-198012000-00044"},{"key":"e_1_2_9_47_1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/j.1399-0004.1981.tb01032.x","article-title":"The femoral hypoplasia\u2010unusual facies syndrome: A genetic entity","volume":"4","author":"Lord J.","year":"1981","journal-title":"Clinical Genetics"},{"key":"e_1_2_9_48_1","unstructured":"Manohar A.(2006). Femoral hypoplasia\u2010unusual facies syndrome. \u00a9Manoharhttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.3329\/bjch.v38i1.20028"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33543"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4080"},{"key":"e_1_2_9_52_1","first-page":"22","article-title":"Femoral hypoplasia\u2010unusual facies syndrome with atypical features\u2014A rare case report","volume":"53","author":"Palit S.","year":"2004","journal-title":"Journal of the Anatomical Society of India"},{"key":"e_1_2_9_53_1","first-page":"63","article-title":"Case report: Femoral hypoplasia\u2014Unusual facies syndrome","volume":"18","author":"Pitt D. B.","year":"1982","journal-title":"Australian Paediatric Journal"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinimag.2006.04.002"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10038"},{"key":"e_1_2_9_56_1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.31254\/jmr.2016.2604","article-title":"Femoral hypoplasia\u2010unusual facies syndrome: A case report and literature review","volume":"2","author":"Rekik M.","year":"2016","journal-title":"Journal of Medical Research"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00491933"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570306"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.2.165"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(97)70035-8"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23201"},{"key":"e_1_2_9_62_1","first-page":"747","article-title":"Femoral hypoplasia\u2010unusual facies syndrome","volume":"34","author":"Singh S. K.","year":"1997","journal-title":"Indian Pediatrics"},{"key":"e_1_2_9_63_1","unstructured":"Sleurs E. &De Catte L.(2001). Femoral hypoplasia\u2010unusual facies syndrome. \u00a9Sleurshttp:\/\/www.thefetus.net\/"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37560"},{"key":"e_1_2_9_65_1","unstructured":"Squiers M. T. Rideout M. &Laub D. J.(2014). Femoral\u2010facial syndrome. EPlasty 14 ic23."},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1159\/000263840"},{"key":"e_1_2_9_67_1","unstructured":"Trabelsi M Monastiri K Hammami A Touzi C Ben HM Gharbi H BennaceurB. (1989). Femoral hypoplasia\u2013unusual facies syndrome. 1989. In: Annales de pediatrie [Internet]. [cit\u00e9 23 avr 2017].693\u2013696. \u00a9Trabelsihttp:\/\/europepmc.org\/abstract\/med\/2624385"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<76::AID-AJMG14>3.0.CO;2-S"},{"key":"e_1_2_9_69_1","first-page":"341","article-title":"A case of femoral\u2010facial syndrome in a patient with autism spectrum disorders","volume":"63","author":"Vecchio D.","year":"2011","journal-title":"Minerva Pediatrica"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02722660"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197107000-00025"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1970.tb01882.x"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.9744"}],"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.38420","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T07:21:11Z","timestamp":1719472871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,26]]},"references-count":72,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1002\/ajmg.a.38420"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38420","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,26]]}}}