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Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
Dr. Alain Verloes,
Yves Gillerot,
Elisabeth Walczak,
Lionel Van Maldergem,
Lucien Koulischer,
Corresponding Author
Dr. Alain Verloes
Centre for Human Genetics, Liège University, Belgium
Centre de Génétique, Pathologie B23, C.H.U. Sart Tilman, (B) 4000 Liège, BelgiumSearch for more papers by this authorYves Gillerot
Institute for Morphologic Pathology, Loverval, Belgium
Search for more papers by this authorElisabeth Walczak
Clinique Saint Vincent de Paul, Rocourt, Belgium
Search for more papers by this authorLionel Van Maldergem
Institute for Morphologic Pathology, Loverval, Belgium
Search for more papers by this authorLucien Koulischer
Centre for Human Genetics, Liège University, Belgium
Search for more papers by this authorDr. Alain Verloes,
Yves Gillerot,
Elisabeth Walczak,
Lionel Van Maldergem,
Lucien Koulischer,
Corresponding Author
Dr. Alain Verloes
Centre for Human Genetics, Liège University, Belgium
Centre de Génétique, Pathologie B23, C.H.U. Sart Tilman, (B) 4000 Liège, BelgiumSearch for more papers by this authorYves Gillerot
Institute for Morphologic Pathology, Loverval, Belgium
Search for more papers by this authorElisabeth Walczak
Clinique Saint Vincent de Paul, Rocourt, Belgium
Search for more papers by this authorLionel Van Maldergem
Institute for Morphologic Pathology, Loverval, Belgium
Search for more papers by this authorLucien Koulischer
Centre for Human Genetics, Liège University, Belgium
Search for more papers by this authorAbstract
We report on a stillborn boy with frontonasal malformation (Sedano-J̌iràsek 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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