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  • Title: Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies.
    Author: Chen CP, Chien SC, Chern SR, Tzen CY, Wang W.
    Journal: Genet Couns; 2007; 18(3):343-7. PubMed ID: 18019377.
    Abstract:
    We report the perinatal findings of a 23 gestational-week fetus with Dandy-Walker malformation (DWM), ventriculomegaly, symmetrical transverse limb deficiencies, hypertelorism, frontal bossing, low-set ears, and a depressed nasal bridge. The karyotype was 46,XX. We believe that this combination is significant. Concomitant DWM and symmetrical distal limb deficiencies may represent a new entity that awaits more new cases for further delineation.
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