A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies ...

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...

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...

C raniosynostosis, the premature fusion of one or more sutures of the skull, is a common craniofacial anomaly, with an estimated incidence of 1/2000 to 1/3000 births. 2 Characteristic deformities of skull shape occur as a result of different patterns of sutural fusion, while compensatory skull expansion occurs at unaffected sutures to accommodate the growing brain. Premature fusion of the sagit...

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...

BACKGROUND Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. CASE REPORT We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pre...

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...