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.
TwiggSRFMatsumotoKKiddAMJGorielyATaylorIBFisherRB: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet78:999–10102006
TwiggSRF, MatsumotoK, KiddAMJ, GorielyA, TaylorIB, FisherRB, : The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. 78:999–1010, 2006)| false