Deformities of the cranium in patients with nonsyndromic single-suture synostosis occur because of growth restriction at fused sutures and growth over compensation at normal sutures. Traditional surgery includes ostectomies of the synostotic suture to release these restricted areas and osteotomies to enable immediate cranial remodeling. In the process of reshaping the cranium, traditional appro...

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...

Introduction: Forty years ago, a medieval skeleton from the 9th century was found near Pitten, Austria. The skeleton ́s burial position at the edge of the cemetery, the presence of multiple skeletal changes typical of mucopolysaccharidosis and its similarity to a painting by Virchow R 200 years ago have previously been interpreted to indicate Pfaundler-Hurler disease, the early name for mucopoly...

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 Multidirectional cranial distraction osteogenesis (MCDO) is a procedure of ours developed earlier for treating craniosynostosis. However, the numerous bone flaps led to prolonged operative time and occasional bone detachment from dura. We have since simplified the osteotomy design. In treating sagittal synostosis, required bone flaps have been reduced to 11 (from ~20). Methods In a...

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.