Skull base development and craniosynostosis

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• 作者：Susan I. Blaser ; Nancy Padfield ; David Chitayat…
• 关键词：Craniosynostosis ; Skull base ; Craniofacial deformity ; Ultrasonography ; Magnetic resonance imaging ; Radiography ; Computed tomography ; Children
• 刊名：Pediatric Radiology
• 出版年：2015
• 出版时间：September 2015
• 年：2015
• 卷：45
• 期：3-supp
• 页码：485-496
• 全文大小：23,955 KB
• 参考文献：1.Senarath-Yapa K, Li S, Meyer NP et al (2013) Integration of multiple signaling pathways determines differences in the osteogenic potential and tissue regeneration of neural crest-derived and mesoderm-derived calvarial bones. Int J Mol Sci 14:5978–5997CrossRef PubMedCentral PubMed
  2.Coussens AK, Hughes IP, Wilkinson CR et al (2008) Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo–in vitro approach. Differentiation 76:531–545CrossRef PubMed
  3.Paumard-Hernández B, Berges-Soria J, Barroso E (2014) Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet. doi:10.​1038/​ejhg.​2014.​205 [Epub ahead of print]PubMed
  4.Senarath-Yapa K, Chung MT, McArdle A et al (2012) Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis 8:103–113CrossRef PubMedCentral PubMed
  5.Greenwood J, Flodman P, Osann K et al (2014) Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med 16:302–310CrossRef PubMedCentral PubMed
  6.Roscioli T, Elakis G, Cox TC et al (2013) Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C: Semin Med Genet 163C:259–270CrossRef
  7.Jacob S, Wu C, Freeman TA et al (2007) Expression of Indian Hedgehog, BMP-4 and Noggin in craniosynostosis induced by fetal constraint. Ann Plast Surg 58:215–221CrossRef PubMed
  8.Regelsberger J, Delling G, Tsokos M et al (2006) High-frequency ultrasound confirmation of positional plagiocephaly. J Neurosurg 105:413–417PubMed
  9.Alizadeh H, Najmi N, Mehdizade M et al (2012) Diagnostic accuracy of ultrasonic examination in suspected craniosynostosis among infants. Indian Pediatr 50:148–150CrossRef
  10.Krimmel M, Will B, Wolff M et al (2012) Value of high-resolution ultrasound in the differential diagnosis of scaphocephaly and occipital plagiocephaly. Int J Oral Maxillofac Surg 41:797–800CrossRef PubMed
  11.Fearon JA, Singh DJ, Beals SP et al (2007) The diagnosis and treatment of single sutural synostoses: are CT scans necessary? Plast Reconstr Surg 120:1327–1331CrossRef PubMed
  12.Da Silva FR, de Freitas AT, Shin J et al (2010) Associated (parallel) tomographic findings in patients with single-sutural synostosis. J Craniofac Surg 21:411–413CrossRef
  13.Esparza J, Hinojosa J (2008) Complications in the surgical treatment of craniosynostosis and craniofacial syndromes: apropos of 306 transcranial procedures. Childs Nerv Syst 24:1421–1430CrossRef PubMed
  14.Cetas JS, Nasseri M, Saidi T et al (2013) Delayed intracranial hypertension after cranial vault remodeling for nonsyndromic single-suture synostosis. J Neurosurg Pediatr 11:661–666CrossRef PubMed
  15.Kuang AA, Jenq T, Didier R et al (2013) Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg 24:937–940CrossRef PubMed
  16.Seruya M, Tan SY, Wray AC et al (2013) Total cranial vault remodeling for isolated sagittal synostosis: part 1. Postoperative cranial suture patency. Plast Reconstr Surg 132:602e–610eCrossRef PubMed
  17.Woods RH, Ul-Haq E, Wilkie AO et al (2009) Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 123:1801–1810CrossRef PubMedCentral PubMed
  18.Foo R, Guo Y, McDonald-McGinn DM et al (2009) The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg 124:2085–2095CrossRef PubMed
  19.Raybaud CR, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23:1379–1388CrossRef PubMed
  20.Hukki A, Koljonen V, Karppinen A et al (2012) Brain anomalies in 121 children with non-syndromic single suture craniosynostosis by MR imaging. Eur J Paediatr Neurol 16:671–675CrossRef PubMed
  21.Eley KA, Watt-Smith SR, Sheerin F et al (2014) ‘Black Bone’ MRI: a potential alternative to CT with three-dimensional reconstruction of the craniofacial skeleton in the diagnosis of craniosynostosis. Eur Radiol 24:2417–2426CrossRef PubMed
  22.Tamburrini G, Caldarelli M, Massimi L et al (2012) Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst 28:1511–1523CrossRef PubMed
  23.Barik M, Bajpai M, Das RR et al (2014) Role of 99mTc-ECD SPECT in the management of children with craniosynostosis. Biomed Res Int 2014:172646PubMedCentral PubMed
  24.Haas-Lude K, Krimmel M, Will B et al (2013) Lambdoid synostosis or positional plagiocephaly — a visual diagnosis. Neuropediatrics. doi:10.​1055/​s-0033-1337807
  25.Linz C, Collmann H, Meyer-Marcotty P et al (2014) Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. Arch Dis Child. doi:10.​1136/​archdischild-2014-305944 [Epub ahead of print]PubMed
  26.Haas-Lude K, Wolff M, Will B et al (2014) Clinical and imaging findings in children with non-syndromic lambdoid synostosis. Eur J Pediatr 22:194–208
  27.Rhodes JL, Tye GW, Fearon JA (2014) Craniosynostosis of the lambdoid suture. Semin Plast Surg 28:138–143CrossRef PubMedCentral PubMed
  28.Boyadjiev SA (2007) International craniosynostosis consortium: genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res 10:129–137CrossRef PubMed
  29.Massimi L, Caldarelli M, Tamburrini G et al (2012) Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst 28:1311–1317CrossRef PubMed
  30.Lin IC, Slemp AI, Hwang C et al (2007) Dihydrotestosterone stimulates proliferation and differentiation of fetal calvarial osteoblasts and dural cells and induces cranial suture fusion. Plast Reconstr Surg 120:1137–1147CrossRef PubMed
  31.Giumarães-Ferreira J, Gewalli F, David L et al (2006) Sagittal synostosis: I. Preoperative morphology of the skull. Scand J Plast Reconstr Surg Hand Surg 40:193–199CrossRef
  32.Lee HQ, Hutson JM, Wray AC et al (2012) Changing epidemiology of nonsyndromic craniosynostosis and revisiting the risk factors. J Craniofac Surg 23:1245–1251CrossRef PubMed
  33.Azimi C, Kennedy SJ, Chitayat D et al (2003) Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 117:127–135
  34.Goodrich JT (2005) Skull base growth in craniosynostosis. Childs Nerv Syst 21:871–879CrossRef PubMed
  35.Van der Meulen J (2012) Metopic synostosis. Childs Nerv Syst 28:1359–1367CrossRef PubMedCentral PubMed
  36.Birgfeld CB, Saltzman BS, Hing AV et al (2013) Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg 24:178–185CrossRef PubMed
  37.Rosenberg JB, Tepper OM, Medow NB (2013) Strabismus in craniosynostosis. J Pediatr Ophthalmol Strabismus 50:140–148CrossRef PubMed
  38.Dundulis JA, Becker DB, Govier DP et al (2004) Coronal ring involvement in patients treated for unilateral coronal craniosynostosis. Plast Reconstr Surg 114:1695–1703CrossRef PubMed
  39.Seto ML, Hing AV, Chang J et al (2007) Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A 143:678–686CrossRef
  40.(2014) Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). http://​www.​ncbi.​nim.​nih.​gov/​omim . Accessed 13 Dec 2014
  41.Sauerhammer TM, Oh AK, Boyajian M et al (2014) Isolated frontosphenoidal synostosis: a rare cause of synostotic frontal plagiocephaly. J Neurosurg Pediatr 13:553–558CrossRef PubMed
  42.Schmelzer RE, Fearon JA (2007) ‘Z-pattern’ craniosynostosis: a novel pattern of trisutural fusion. J Craniofac Surg 18:568–574CrossRef PubMed
  43.Rhodes JL, Kolar JC, Fearon JA (2010) Mercedes Benz pattern craniosynostosis. Plast Reconstr Surg 125:299–304CrossRef PubMed
  
• 作者单位：Susan I. Blaser (1) (2)
  Nancy Padfield (1)
  David Chitayat (3) (4)
  Christopher R. Forrest (5)
  
  1. Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto, M5G 1X8, Canada
  2. Department of Otolaryngology — Head and Neck Surgery, University of Toronto, Toronto, Canada
  3. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada
  4. Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and University of Toronto, Toronto, Canada
  5. Centre for Craniofacial Care and Research, Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children and University of Toronto, Toronto, Canada
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Imaging and Radiology
  Pediatrics
  Neuroradiology
  Nuclear Medicine
  Ultrasound
  Oncology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1998

文摘

Abnormal skull shape resulting in craniofacial deformity is a relatively common clinical finding, with deformity either positional (positional plagiocephaly) or related to premature ossification and fusion of the skull sutures (craniosynostosis). Growth restriction occurring at a stenosed suture is associated with exaggerated growth at the open sutures, resulting in fairly predictable craniofacial phenotypes in single-suture non-syndromic pathologies. Multi-suture syndromic subtypes are not so easy to understand without imaging. Imaging is performed to define the site and extent of craniosynostosis, to determine the presence or absence of underlying brain anomalies, and to evaluate both pre- and postoperative complications of craniosynostosis. Evidence for intracranial hypertension may be seen both pre- and postoperatively, associated with jugular foraminal stenosis, sinovenous occlusion, hydrocephalus and Chiari 1 malformations. Following clinical assessment, imaging evaluation may include radiographs, high-frequency US of the involved sutures, low-dose (20–30 mAs) CT with three-dimensional reformatted images, MRI and nuclear medicine brain imaging. Anomalous or vigorous collateral venous drainage may be mapped preoperatively with CT or MR venography or catheter angiography.