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Article

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 - 1 Sept 2018

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

Abstract excerpt

Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing...

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PMID: 30070764
DOI: 10.1002/ajmg.a.40425

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