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Facial femoral syndrome information


Facial femoral syndrome
Other namesFemoral Hyperplasia-Unusual Facies syndrome

Facial femoral syndrome is a rare congenital disorder.[1] It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.[2]

  1. ^ Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G (2017) Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am J Med Genet A
  2. ^ Lacarrubba-Flores, Maria Dora Jazmin; Carvalho, Daniel Rocha; Ribeiro, Erlane Marques; Moreno, Carolina Araujo; Esposito, Ana Carolina; Marson, Fernando Augusto Lima; Loureiro, Thereza; Cavalcanti, Denise Pontes (September 2018). "Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair". American Journal of Medical Genetics. Part A. 176 (9): 1917–1928. doi:10.1002/ajmg.a.40425. ISSN 1552-4833. PMID 30070764.

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