Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature.
Shprintzen-Goldberg syndrome is a rare connective tissue disorder characterized by marfanoid habitus and additional dysmorphic stigmata. Craniocervical anomalies occur in fewer than 30% of cases. Serious vertebral instability can also occur, albeit rarely. The authors report on the first patient treated with surgical fusion at the craniocervical junction because of a C-1 dysplasia and severe instability. The skeletal and cardiovascular anomalies that can pose additional problems for surgical treatment and perioperative care are discussed in detail.
Jödicke
Andreas
A
Department of Neurosurgery, University Medical Centre Giessen and Marburg, Giessen, Germany. andreas.joedicke@neuro.med.uni-giessen.de
Hahn
Andreas
A
Berthold
Lars D
LD
Scharbrodt
Wolfram
W
Böker
Dieter-Karsten
DK
D000015:Abnormalities, Multiple / Q000473:pathology* / Q000601:surgery; D001269:Atlanto-Occipital Joint; D001270:Cervical Atlas / Q000002:abnormalities*; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000151:congenital* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007593:Joint Instability / Q000209:etiology* / Q000601:surgery; D008297:Male; D013123:Spinal Fusion; D013577:Syndrome