Document Detail

Craniofrontonasal dysplasia associated with Chiari malformation.
MedLine Citation:
PMID:  20367343     Owner:  NLM     Status:  MEDLINE    
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.
Amit Mahore; Abhidha Shah; Trimurti Nadkarni; Atul Goel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of neurosurgery. Pediatrics     Volume:  5     ISSN:  1933-0715     ISO Abbreviation:  J Neurosurg Pediatr     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-04-06     Completed Date:  2010-04-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101463759     Medline TA:  J Neurosurg Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  375-9     Citation Subset:  IM    
Department of Neurosurgery, King Edward Memorial Hospital and Seth G. S. Medical College, Parel, Mumbai, India.
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MeSH Terms
Abnormalities, Multiple / radiography,  surgery
Arnold-Chiari Malformation / complications*,  radiography
Craniofacial Dysostosis / complications*,  radiography,  surgery
Craniosynostoses / complications*,  radiography,  surgery
Family Health
Hypertelorism / complications,  radiography,  surgery
Middle Aged
Nose / abnormalities*,  radiography,  surgery
Tomography, X-Ray Computed
Young Adult

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