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  • Title: Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
    Author: Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L.
    Journal: Am J Med Genet; 1992 Jan 15; 42(2):180-3. PubMed ID: 1733166.
    Abstract:
    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.
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