Beutler, E., and Baluda, M. C. (1966). Improved method for measuring galactose-l-phosphate uridyl transferase activity of erythrocytes. Clinica Chimica Acta, 13, 369-379. Federhol, M. K. (1969). Quantitative studies on the inherited variants of serum alpha-l-antitrypsin. Scandinavian Journal of Clinical and Laboratory Investigation, 23, 97-103. Lejeune, J., Berger, R., Lafourcase, J., and Retho...

We present a new method to analyze, classify and characterize 3D landmark-based shapes. It is based on a framework provided by oriented matroid theory, that is on a combinatorial encoding of convexity properties. We apply this method to a set of skull shapes presenting various types of coronal craniosynostosis.

OBJECTIVE Sagittal synostosis is the most common form of isolated craniosynostosis. Although some centers have reported extensive experience with this condition, reports focused on a single center. In 2017, Synostosis Research Group (SynRG), multicenter collaborative network, was formed to study Here, authors report their early treating sagittal in network. The goals were describe practice patt...

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a lysosomal cysteine protease that plays a role in degrading the organic matrix of bones, acting in bone resorption and bone remodeling. The disease is primarily characterized by osteosclerosis, bone fragility, short stature, acro-osteolysis, and delayed closure of the cranial ...

BACKGROUND Presentation of proximal radioulnar synostosis varies from cosmetic concerns with no functional limitations to significant pronation deformity which hampers activities of daily living. Surgical management must be considered based on the position of the forearm and functional limitations. We describe the surgical technique, results, and complications of excision of the radial head alo...

Congenital proximal radioulnar synostosis is a rare congenital anomaly that can be extremely disabling, especially when it occurs bilaterally or if there is severe hyperpronation. Currently, osteotomy to achieve a neutral or slightly pronated position is widely accepted for the management of patients who have severe pronation. The present study evaluates the result of two-stage double-level rot...

Beutler, E., and Baluda, M. C. (1966). Improved method for measuring galactose-l-phosphate uridyl transferase activity of erythrocytes. Clinica Chimica Acta, 13, 369-379. Federhol, M. K. (1969). Quantitative studies on the inherited variants of serum alpha-l-antitrypsin. Scandinavian Journal of Clinical and Laboratory Investigation, 23, 97-103. Lejeune, J., Berger, R., Lafourcase, J., and Retho...

BACKGROUND Historically, surgical treatment of children with a delayed presentation of cranial synostosis required complex cranial vault reconstruction. Recently, less invasive options for surgical correction, such as internal distraction osteogenesis, have been explored. In this study, we describe the successful management of delayed presentation of sagittal synostosis using distraction osteog...

Pathogenic mutations in FGFR2 and TWIST genes are detected in the majority of individuals with Crouzon, Pfeiffer, Apert, and Saethre-Chotzen syndromes. In contrast, mutations have been identified rarely in cases of nonsyndromic, single suture craniosynostosis. Recently, two studies confirming somatic mosaicism with local expression of an FGFR mutation have been reported. This study investigates...