Craniofrontonasal dysplasia associated with Chiari malformation.
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.
Mahore
Amit
A
Department of Neurosurgery, King Edward Memorial Hospital and Seth G. S. Medical College, Parel, Mumbai, India.
Shah
Abhidha
A
Nadkarni
Trimurti
T
Goel
Atul
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000601:surgery; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000000981:diagnostic imaging; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D003398:Craniosynostoses / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D005192:Family Health; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000000981:diagnostic imaging / Q000601:surgery; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed; D055815:Young Adult