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The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (<jats:italic>n<\/jats:italic>= 21); not providing sufficient data to ascertain the diagnosis (<jats:italic>n<\/jats:italic>= 29); were better assigned to another diagnosis (<jats:italic>n<\/jats:italic>= 3); and, being fetuses of the second trimester (<jats:italic>n<\/jats:italic>= 13) due to the obvious difficult to confirm a typical facies. Clinical\u2010radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.<\/jats:p>","DOI":"10.1002\/ajmg.a.40425","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T03:31:31Z","timestamp":1533612691000},"page":"1917-1928","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Femoral\u2010facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6680-793X","authenticated-orcid":false,"given":"Maria Dora Jazmin","family":"Lacarrubba\u2010Flores","sequence":"first","affiliation":[{"name":"Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"},{"name":"Perinatal Genetic Program, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Rocha","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Genetic Unit, SARAH Network of Rehabilitation Hospital Federal District Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Albert Sabin Fortaleza Cear\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Araujo","family":"Moreno","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"},{"name":"Perinatal Genetic Program, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Esposito","sequence":"additional","affiliation":[{"name":"Pediatric Division Hospital Municipal Nossa Senhora do Loreto Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4955-4234","authenticated-orcid":false,"given":"Fernando Augusto Lima","family":"Marson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences, University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thereza","family":"Loureiro","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Genetics, Faculty of Medicine, University of S\u00e3o Paulo Riber\u00e3o Preto, S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6617-4730","authenticated-orcid":false,"given":"Denise Pontes","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"},{"name":"Perinatal Genetic Program, Department of Medical Genetics, Faculty of Medical Sciences University of Campinas [Unicamp] Campinas, S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-3782(00)00125-0"},{"key":"e_1_2_8_3_1","first-page":"203","article-title":"Congenital absence of femur and fibula","volume":"15","author":"Acker R. 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