Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review Comi AM; Mehta P; Hatfield LA; Dowling MMArch Neurol 2005[Dec]; 62 (12): 1924-7OBJECTIVE: To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients. DESIGN: We retrospectively reviewed medical records in a group of 28 patients with SWS, noting the main features of SWS and accompanying unexpected abnormalities. We also conducted a literature review of abnormalities associated with SWS. RESULTS: Twenty-eight medical records of patients with SWS were reviewed. Of this number, we found 8 (29%, 2 female) patients who manifested other abnormalities. Our review of the literature uncovered 15 additional cases with associated abnormalities. CONCLUSIONS: We hypothesize that the abnormalities associated with SWS suggest testable insights regarding pathogenesis and that chromosome 17p1-p13 may be a candidate region for genes involved with SWS. We also propose that some patients with SWS may have disorders of cholesterol biosynthesis or carbohydrate glycosylation.|Adolescent[MESH]|Adult[MESH]|Carbohydrates/physiology[MESH]|Child[MESH]|Child, Preschool[MESH]|Cholesterol/metabolism[MESH]|Chromosome Mapping[MESH]|Chromosomes, Human, Pair 17/*genetics[MESH]|Congenital Abnormalities/*genetics/pathology/physiopathology[MESH]|Female[MESH]|Genetic Linkage/genetics[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Mutation/*genetics[MESH]|Retrospective Studies[MESH]|Sturge-Weber Syndrome/*complications/*genetics/metabolism[MESH]|ras GTPase-Activating Proteins/genetics[MESH] |