F Stig Jacobsen

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No major susceptibility genes for sporadically occurring congenital vertebral malformations (CVM) in humans have been identified to date. Body patterning genes whose mutants cause axial skeletal anomalies in mice are candidates for human CVM susceptibility. T (also known as Brachyury) and TBX6 are critical genes needed to establish mesodermal identity. We(More)
A simple, rapid, and accurate method for measuring limb-length discrepancies with computerized axial tomographic equipment is described. With this method less irradiation is delivered and some of the errors of computation are eliminated, compared with conventional methods. The costs of the technique are comparable with those of scanograms. The method is(More)
Spinal epidural abscess (SEA) is rare, especially in children, in which fewer than 90 cases have been reported. We present three case examples illustrating the complex course before diagnosis and treatment. All patients had back pain, but two had pain of the abdomen or extremity dominating the clinical picture. Magnetic resonance imaging (MRI) was found to(More)
OBJECTIVE Genetic and environmental factors influencing spinal development in lower vertebrates are likely to play a role in the abnormalities associated with human congenital scoliosis (CS) and idiopathic scoliosis (IS). An overview of the molecular embryology of spinal development and the clinical and genetic aspects of CS and IS are presented. Utilizing(More)
Investigations have not identified a major locus for congenital vertebral malformations. Based on observations in mice, we hypothesized that mutations in DLL3, a member of the notch-signaling pathway, might contribute to human vertebral malformations. We sequenced the DLL3 gene in 50 patients with congenital vertebral malformations. A Caucasian male patient(More)
An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its(More)
BACKGROUND Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital(More)