Craniofrontonasal dysplasia associated with Chiari malformation

Report of 3 cases

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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.

Abbreviations used in this paper: CFND = craniofrontonasal dysplasia; CFNS = craniofrontonasal syndrome; CM-I = Chiari malformation Type I.
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Contributor Notes

Address correspondence to: Atul Goel, M.Ch., Department of Neurosurgery, King Edward VII Memorial Hospital, Parel, Mumbai, 400012, India. email:
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