FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr3(Y367C/+) mice mimicking ACH and craniofacial analysis of patients with ACH and FGFR3-related cr...

craniosynostoses is defined as a condition of premature fusion in one or more cranial sutures leading to a number of significant complications, mainly raised intracranial pressure which can itself cause other neurodevelopmental complications. copper beaten skull appearance is a well-known presentation of craniosynostoses made by the strong impression of the brain’s gyri on the inner layer of th...

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...

We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis until early skull x rays were examined an...

Craniosynostoses are recognized as a group of birth defects that impair the skull structures by early closure of one or more sutures, causing an abnormal cranial shape. Among the "simple" craniosynostoses, (a single closed suture) the most common is scaphocephaly. The 3D CT scan is the most relevant and rapid diagnostic test. The authors present the personal experience of 98 scaphocephaly cases...

Craniosynostosis is the premature fusion of the bones of the calvaria resulting in abnormal skull shapes that can be associated with increased intracranial pressure. While craniosynostoses of multiple different types can be easily diagnosed, quantifying the severity of the abnormality is much more subjective and not a standard part of clinical practice. For this purpose we have developed a seve...

Purpose: A critical evaluation of the use of distraction osteogenesis in the surgical treatment of syndromic craniosynostoses, based on the experience of a single institution, with an emphasis on surgical pitfalls and complications. Methods: Retrospective review of the clinical data of eleven patients operated on in the same institution. Medical charts, surgical notes and other relevant data we...