Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

PURPOSE: Non-syndromic sagittal and/or metopic craniosynostosis, occurring once in every 4,000 live births, accounts for half of all craniosynostosis cases. Despite success in identifying the genes underlying rare syndromic craniosynostoses, mutations in these genes are very rarely found in their non-syndromic counterparts. We considered that the often sporadic occurrence of non-syndromic crani...

Previously, we reported NELL-1 as a novel molecule overexpressed during premature cranial suture closure in patients with craniosynostosis (CS), one of the most common congenital craniofacial deformities. Here we describe the creation and analysis of transgenic mice overexpressing Nell-1. Nell-1 transgenic animals exhibited CS-like phenotypes that ranged from simple to compound synostoses. Hist...

The formation of cranial bone requires the differentiation of osteoblasts from undifferentiated mesenchymal cells. The balance between osteoblast recruitment, proliferation, differentiation and apoptosis in sutures between cranial bones is essential for calvarial bone formation. The mechanisms that control human osteoblasts during normal calvarial bone formation and premature suture ossificatio...

Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatas...

Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital due to congenital torticollis and asymmetry of face, skull and trunk. Craniosynostosis was suspected due to abnormal head shape. 3D-CT revealed closure of the sagittal suture without scaphocephalic skull. Due to atypical craniosynostosis ...

INTRODUCTION: Craniosynostosis surgery is commonly performed for children at academic centers across the US. Previous literature has found increased hospital and surgical volume to correlate with better post-operative outcomes and decreased costs. However, the association between annual hospital volume of craniosynostosis surgery on inpatient complications and resource utilization is not well s...

Craniosynostoses are caused by premature fusion of one or more sutures of the infant’s skull with an incidence between 1:1000 and 1:10 000. Isolated and syndromic forms can be differentiated and are involved in over 150 genetic disorders. Syndromic forms tend to be inherited and include variable other malformations of the extremities, the backbone, and the face. Isolated forms of craniosynostos...

In this review, we discuss in detail our current procedure for treating craniosynostosis using multidirectional cranial distraction osteogenesis (MCDO). The MCDO method allows all phenotypes of skull deformity to be reshaped by distraction osteogenesis, except in patients who are 5 months of age or younger and patients with posterior cranial vault problems. We report the results of clinical dat...

OBJECTIVE To review research and theory regarding the neurobehavioral correlates and outcomes of single-suture, or isolated, craniosynostosis in children. METHODS A critical review of 17 studies of the hypothesized association between isolated craniosynostosis and neurodevelopment. RESULTS Isolated craniosynostosis is associated with a three- to fivefold increase in risk for cognitive defic...