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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

We report on a stillborn boy with frontonasal malformation (Sedano-Jiràsek 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.[1]

References

  1. Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). Verloes, A., Gillerot, Y., Walczak, E., Van Maldergem, L., Koulischer, L. Am. J. Med. Genet. (1992) [Pubmed]
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