We have previously shown that, in human and zebrafish, hypomorphic mutations of the gene encoding the retinoic acid (RA)-metabolizing enzyme Cyp26b1 result in coronal craniosynostosis, caused by an RA-induced premature transitioning of suture osteoblasts to preosteocytes, inducing ectopic mineralization of the suture's osteoid matrix. In addition, we showed that human CYP26B1 null patients have...

BACKGROUND AND PURPOSE Jugular foraminal stenosis (JFS) or atresia (JFA) with collateral emissary veins (EV) has been documented in syndromic craniosynostosis. Disruption of EV during surgery can produce massive hemorrhage. Our purpose was to describe the prevalence of prominent basal emissary foramina (EF), which transmit enlarged EV, in syndromic craniosynostosis. Our findings were correlated...

BACKGROUND In patients with craniosynostosis, intracranial pressure (ICP) has been reported to increase even in the absence of overt symptoms. The early and non-invasive detection of intracranial hypertension is important for reducing the risk of abnormal brain development in pediatric patients. PURPOSE To assess whether the apparent diffusion coefficient (ADC) of white matter during the card...

Fibroblast growth factors (FGFs) and their receptors (FGFRs) are known to play a critical role in a variety of fundamental processes, including wound healing, angiogenesis, and development of multiple organ systems. Mutations in the FGFR gene family have been linked to a series of syndromes (the craniosynostosis syndromes) whose primary phenotype involves aberrant development of the craniofacia...

BACKGROUND Fronto-orbital advancement for nonsyndromic craniosynostosis has been thought to injure frontal sinus buds, lead to chronic sinus disease, and influence final forehead shape. This study investigates the effect of fronto-orbital advancement in infancy on subsequent frontal sinus volume, morphology, and disease. METHODS The authors conducted a retrospective review of nonsyndromic cra...

Apert Syndrome is a rare genetic disorder that presents with craniosynostosis, syndactyly and midface retrusion dysostosis as well many other anomalies. an autosomal dominant syndrome equally in males females has occurrence rate of 1 every 65,000.

Syndromic craniosynostosis is associated with a high rate of respiratory difficulty, due mainly to midfacial hypoplasia. Nasopharyngeal airway establishment has been reported as the first-line approach to airway obstruction and may obviate the need for a highly invasive tracheotomy. No previous studies have compared airway obstruction status in syndromic craniosynostosis between cases requiring...

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

INTRODUCTION: Traditional frontoorbital advancement with a supraorbital bar is the standard technique for correcting coronal craniosynostosis. However, several reports indicate that cranioplasty using distraction osteogenesis can be an alternative. To maximize the advantages of distraction, preservation of the dura attachment to the frontal bone appears to be important. Therefore, we designed a...

Abstract Background Craniosynostosis is a major category in craniofacial anomalies defined as premature closure of one or more cranial sutures. Diagnostic Indices and different measures landmark points are being chosen according to age, the type deformity its severity, surgical procedure targeted cosmetic outcome. Objectives Primary objective compare anthropometric Post-operative short long ter...