Lines, Matthew A. ; Huang, Lijia ; Schwartzentruber, Jeremy 
; Douglas, Stuart L. ; Lynch, Danielle C. ; Beaulieu, Chandree ; Guion-Almeida, Maria Leine ; Zechi-Ceide, Roseli Maria ; Gener, Blanca ; Gillessen-Kaesbach, Gabriele ; Nava, Caroline ; Baujat, Geneviève ; Horn, Denise ; Kini, Usha ; Caliebe, Almuth ; Alanay, Yasemin ; Utine, Gulen Eda ; Lev, Dorit ; Kohlhase, Jürgen ; Grix, Arthur W. ; Lohmann, Dietmar R. ; Hehr, Ute ; Böhm, Detlef ; Majewski, Jacek ; Bulman, Dennis E. ; Wieczorek, Dagmar ; Boycott, Kym M.
; Douglas, Stuart L. ; Lynch, Danielle C. ; Beaulieu, Chandree ; Guion-Almeida, Maria Leine ; Zechi-Ceide, Roseli Maria ; Gener, Blanca ; Gillessen-Kaesbach, Gabriele ; Nava, Caroline ; Baujat, Geneviève ; Horn, Denise ; Kini, Usha ; Caliebe, Almuth ; Alanay, Yasemin ; Utine, Gulen Eda ; Lev, Dorit ; Kohlhase, Jürgen ; Grix, Arthur W. ; Lohmann, Dietmar R. ; Hehr, Ute ; Böhm, Detlef ; Majewski, Jacek ; Bulman, Dennis E. ; Wieczorek, Dagmar ; Boycott, Kym M. 
Zusammenfassung
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 ...
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