期刊
JOURNAL OF NEUROSURGERY-PEDIATRICS
卷 5, 期 4, 页码 375-379出版社
AMER ASSOC NEUROLOGICAL SURGEONS
DOI: 10.3171/2009.10.PEDS09155
关键词
Chiari malformation; craniofrontonasal dysplasia; craniofrontonasal syndrome; X-linked inheritance
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. (DOI: 10.3171/2009.10.PEDS09155)
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