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- W1796347836 abstract "Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented." @default.
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- W1796347836 date "2010-04-01" @default.
- W1796347836 modified "2023-10-13" @default.
- W1796347836 title "Craniofrontonasal dysplasia associated with Chiari malformation" @default.
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- W1796347836 doi "https://doi.org/10.3171/2009.10.peds09155" @default.
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