Reference : Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malfor...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Acromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)
Verloes, Alain [Université de Liège - ULiège > > Génétique générale et humaine >]
Gillerot, Y. [> > > >]
Walczak, E. [> > > >]
Van Maldergem, Lionel [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Koulischer, Lucien [Université de Liège - ULiège > > Relations académiques et scientifiques (Médecine) >]
American Journal of Medical Genetics
Yes (verified by ORBi)
[en] We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.

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