Craniosynostosis/ Paediatric Craniovertebral Anomalies
نویسنده
چکیده
Craniosynostosis is defined here as the premature closure of one or more of the skull vault sutures. While advances in molecular genetics have revolutionised our understanding of the various syndromes that may include craniosynostosis, and improved imaging techniques have provided new information about not only the calvarial sutures but also changes affecting the skull base and facial skeletons, the initial diagnosis (or more accurately the initial suspicion) of craniosynostosis still depends primarily on the patient’s – usually a child’s – appearance. The aim of this chapter is to provide for the paediatric neurologist a broad overview of this complex subject. For convenience craniosynostosis affecting a single vault suture (sometimes referred to as ‘simple’ synostosis) will be dealt with separately from the various complex/syndromic forms in which premature closure of several – sometimes all – of the skull sutures is usual although overlap between the two groups is not uncommon. Johnson and Wilkie have provided a useful overview from a craniofacial surgeon and geneticist’s perspective (Johnson and Wilkie 2011).
منابع مشابه
Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study
BACKGROUND Joint hypermobility is a common clinical characteristic of patients with Osteogenesis imperfecta (OI), a disorder with serious comorbidities of scoliosis and cranial base anomalies. This study aimed at evaluating how prevalent joint hypermobility is in paediatric OI patients, and to find out whether it serves as a potential predictive marker of the different spinal complications; sco...
متن کاملAnomalies of the craniovertebral junction – a very rare case report
A very rare case of anomalies of the craniovertebral junction (CVJ) is reported owing to its clinical significance and rarity. MRI and CT scan studies of the CVJ of a 52-year-old female patient revealed a hypoplastic clivus, an occipital vertebra, partial occipitalization of the atlas and atlas posterior rachischisis. The presence of an occipital vertebra and occipitalization of the atlas in th...
متن کاملUse of Oral Sirolimus in Paediatric Patients with Serious Vascular Anomalies: Case Report
Background Pediatric vascular anomalies comprise a heterogeneous group of clinical disorders of varying severity. These anomalies are divided into vascular tumors or vascular malformations. Different therapeutic strategies have been used depending on the pathology in question. In recent years, mammalian target of rapamycin (mTOR) inhibitors have been explored as a therapeutic option in patients...
متن کاملAbstract : Congenital malformations of various sorts account for a large percentage of childhood hydrocephalus but associated Craniovertebral junction (CVJ) anomaly
Abstract : Congenital malformations of various sorts account for a large percentage of childhood hydrocephalus but associated Craniovertebral junction (CVJ) anomaly has not been reported earlier. Though the anaesthetic concerns for isolated arrested hydrocephalus and CVJ anomaly has been reported but the concomitant occurrence of both and its anaesthetic implications is not mentioned in literat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2017