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Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome) |
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| Authors: | Alain Verloes Yves Gillerot Elisabeth Walczak Lionel Van Maldergem Lucien Koulischer |
| Abstract: | We report on a stillborn boy with frontonasal malformation (Sedano-J?iràsek 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. |
| Keywords: | acrocallosal syndrome encephalocoele frontonasal dysplasia MCA syndrome preaxial polydactyly |