craniosynostoses

Summary

Summary: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.

Top Publications

  1. Jezela Stanek A, Krajewska Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 2013;17:221-4 pubmed publisher
    ..However recent advances in molecular genetics have led to a discover of other genes implicated in different craniosynostosis syndromes...
  2. Agochukwu N, Solomon B, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012;28:1447-63 pubmed publisher
    ..The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses.
  3. Cooper G, Durham E, Cray J, Siegel M, Losee J, Mooney M. Tissue interactions between craniosynostotic dura mater and bone. J Craniofac Surg. 2012;23:919-24 pubmed publisher
  4. Hatch N. FGF signaling in craniofacial biological control and pathological craniofacial development. Crit Rev Eukaryot Gene Expr. 2010;20:295-311 pubmed
    ..In this review we will discuss recent in vitro and in vivo studies investigating biologic mechanisms by which signaling through FGFRs influences skeletal development and can lead to craniosynostosis...
  5. Lattanzi W, Barba M, Novegno F, Massimi L, Tesori V, Tamburrini G, et al. Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses. Bone. 2013;52:474-84 pubmed publisher
    ..the molecular basis of the overactive osteogenic process may at least in part involve a deregulation of the LMP-related pathway in calvarial cells...
  6. Bernardini C, Barba M, Tamburrini G, Massimi L, Di Rocco C, Michetti F, et al. Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification. Childs Nerv Syst. 2012;28:1295-300 pubmed publisher
    Non-syndromic craniosynostoses (NSC) occur as isolated skull malformations due to the premature ossification of one (single-suture forms) or more (complex forms) calvarial sutures and represent the most frequent form of craniosynostosis ..
  7. Wilbrand J, Wilbrand M, Malik C, Howaldt H, Streckbein P, Schaaf H, et al. Complications in helmet therapy. J Craniomaxillofac Surg. 2012;40:341-6 pubmed publisher
    ..Helmet therapy is an established method to correct positional head deformity in early infancy. Side effects such as skin erythema or pressure sores are well known for helmet therapy, but not yet adequately discussed in current literature...
  8. de Jong T, Toll M, de Gier H, Mathijssen I. Audiological profile of children and young adults with syndromic and complex craniosynostosis. Arch Otolaryngol Head Neck Surg. 2011;137:775-8 pubmed publisher
    ..To determine syndrome-specific type, severity, and prevalence of hearing loss to facilitate follow-up and treatment...
  9. Liu J, Nam H, Wang E, Hatch N. Further analysis of the Crouzon mouse: effects of the FGFR2(C342Y) mutation are cranial bone-dependent. Calcif Tissue Int. 2013;92:451-66 pubmed publisher

More Information

Publications96

  1. Seruya M, Oh A, Boyajian M, Posnick J, Keating R. Treatment for delayed presentation of sagittal synostosis: challenges pertaining to occult intracranial hypertension. J Neurosurg Pediatr. 2011;8:40-8 pubmed publisher
    ..Intracranial hypertension can be missed in the absence of overt findings. Here, an algorithm is presented for the elucidation of intracranial hypertension and approaches to surgical treatment during calvarial reconstruction...
  2. van Wijk R, Boere Boonekamp M, Groothuis Oudshoorn C, van Vlimmeren L, IJzerman M. HElmet therapy Assessment in infants with Deformed Skulls (HEADS): protocol for a randomised controlled trial. Trials. 2012;13:108 pubmed publisher
    ..The HEADS study (HElmet therapy Assessment in Deformed Skulls) aims to determine the effects and costs of helmet therapy compared to no helmet therapy in infants with moderate to severe skull deformation...
  3. Feijen M, Schuckman M, Habets E, van Der Hulst R. Positional plagiocephaly and brachycephaly: is there a correlation between subjective and objective assessment of cranial shape?. J Craniofac Surg. 2012;23:998-1001 pubmed publisher
    ..Because there are no data available comparing the result of PCM with subjective assessment of cranial shape, we performed the current study...
  4. Tamburrini G, Caldarelli M, Massimi L, Gasparini G, Pelo S, Di Rocco C. Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst. 2012;28:1511-23 pubmed publisher
    The protocols for clinical evaluation and management of children with complex craniosynostoses are significantly different from those used in single suture forms...
  5. Connolly J, Gruss J, Seto M, Whelan M, Ellenbogen R, Weiss A, et al. Progressive postnatal craniosynostosis and increased intracranial pressure. Plast Reconstr Surg. 2004;113:1313-23 pubmed
    ..It is important for clinicians to be aware of this group of patients, because any delay in diagnosis and treatment can result in severe consequences for the patients...
  6. Connerney J, Andreeva V, Leshem Y, Mercado M, Dowell K, Yang X, et al. Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure. Dev Biol. 2008;318:323-34 pubmed publisher
  7. Jimenez D, Barone C. Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis. J Neurosurg. 1998;88:77-81 pubmed
    ..The use of endoscopic techniques for early correction of sagittal synostosis is safe; decreases blood loss, operative time, and hospitalization costs; and provides excellent early surgical results. ..
  8. van der Meulen J, van den Ouweland A, Hoogeboom J. Trigonocephaly in Muenke syndrome. Am J Med Genet A. 2006;140:2493-4 pubmed
    ..We observed trigonocephaly as a new manifestation in Muenke syndrome. As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly. ..
  9. Shotelersuk V, Siriwan P, Ausavarat S. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. Cleft Palate Craniofac J. 2006;43:152-4 pubmed
    ..Nonetheless, further studies to detect the protein are needed to substantiate the hypothesis. ..
  10. Hilling D, Mathijssen I, Vaandrager J. Aesthetic results of fronto-orbital correction in trigonocephaly. J Craniofac Surg. 2006;17:1167-74 pubmed
    ..Main focus of deformity on short and long term remains the temporal depression, and thus requires extra attention during surgery. ..
  11. Loveday B, de Chalain T. Active counterpositioning or orthotic device to treat positional plagiocephaly?. J Craniofac Surg. 2001;12:308-13 pubmed
    ..Active counterpositioning generally had a slightly better outcome than orthotic management after the management period. ..
  12. Selber J, Reid R, Chike Obi C, Sutton L, Zackai E, McDonald McGinn D, et al. The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg. 2008;122:527-33 pubmed publisher
    ..Metopic synostosis is on the rise. Changing demographic bases and increasing proportions of syndromic patients may be clues to the etiology of this epidemiologic event. ..
  13. Gosain A, Recinos R, Agresti M, Khanna A. TGF-beta1, FGF-2, and receptor mRNA expression in suture mesenchyme and dura versus underlying brain in fusing and nonfusing mouse cranial sutures. Plast Reconstr Surg. 2004;113:1675-84 pubmed
    ..Understanding these differences may eventually help to identify possible targets and time windows by which to most effectively modulate cranial suture fusion...
  14. Mefford H, Shafer N, Antonacci F, Tsai J, Park S, Hing A, et al. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A. 2010;152A:2203-10 pubmed publisher
    ..The genes within and disrupted by CNVs in this cohort are potential novel candidate genes for craniosynostosis. ..
  15. Holmes G, Rothschild G, Roy U, Deng C, Mansukhani A, Basilico C. Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol. 2009;328:273-84 pubmed publisher
  16. Jeevan D, Anlsow P, Jayamohan J. Abnormal venous drainage in syndromic craniosynostosis and the role of CT venography. Childs Nerv Syst. 2008;24:1413-20 pubmed publisher
    ..Based on these findings, the authors assert that those children with some syndromic craniosynostosis being considered for surgery should undergo venographic studies as part of their pre-operative evaluation. ..
  17. Rannan Eliya S, Taylor I, De Heer I, van den Ouweland A, Wall S, Wilkie A. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet. 2004;115:200-7 pubmed
    ..We conclude that similar biological processes are likely to shape the occurrence of this c.749C>G mutation as for other mutations of FGFR3 as well as FGFR2. ..
  18. Lee S, Huh E, Byeon J. Two cases of cerebral salt wasting syndrome developing after cranial vault remodeling in craniosynostosis children. J Korean Med Sci. 2004;19:627-30 pubmed
    ..The hyponatremia or natricuresis of the children improved and neurologic and circulatory sequelae could be prevented. ..
  19. Johnson D, Wilkie A. Craniosynostosis. Eur J Hum Genet. 2011;19:369-76 pubmed publisher
    ..This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management. ..
  20. de Jong T, Bannink N, Bredero Boelhouwer H, van Veelen M, Bartels M, Hoeve L, et al. Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg. 2010;63:1635-41 pubmed publisher
    ..The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes. Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented. ..
  21. Kallen B, Robert Gnansia E. Maternal drug use, fertility problems, and infant craniostenosis. Cleft Palate Craniofac J. 2005;42:589-93 pubmed
    ..There was no association with maternal subfertility or infertility treatment. ..
  22. Hutchison B, Stewart A, de Chalain T, Mitchell E. A randomized controlled trial of positioning treatments in infants with positional head shape deformities. Acta Paediatr. 2010;99:1556-60 pubmed publisher
    ..Most infants improved over the 12-month study period, although the use of a sleep positioning wrap did not increase the rate of improvement. ..
  23. Rice D, Rice R, Thesleff I. Molecular mechanisms in calvarial bone and suture development, and their relation to craniosynostosis. Eur J Orthod. 2003;25:139-48 pubmed
    ..The microdissection and in vitro culture techniques have begun the task of identifying Fgfrs, Msx2, and Twist interacting in intricate signalling pathways that if disrupted could lead to craniosynostosis. ..
  24. Schindler S, Friedrich M, Wagener H, Lorenz B, Preising M. Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. J Med Genet. 2002;39:764-6 pubmed
  25. Weinzweig J, Kirschner R, Farley A, Reiss P, Hunter J, Whitaker L, et al. Metopic synostosis: Defining the temporal sequence of normal suture fusion and differentiating it from synostosis on the basis of computed tomography images. Plast Reconstr Surg. 2003;112:1211-8 pubmed
    ..A metopic notch was not seen in any nonsynostotic patient. The morphologic and normative craniofacial data presented permit diagnosis of metopic synostosis based on computed tomography images obtained beyond the normal fusion period. ..
  26. Kapp Simon K, Speltz M, Cunningham M, Patel P, Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 2007;23:269-81 pubmed
    ..Controlled research investigating the relationship between persistent anatomical changes and neurocognitive functioning of school-aged children with SSC is needed. ..
  27. Cinalli G, Spennato P, Sainte Rose C, Arnaud E, Aliberti F, Brunelle F, et al. Chiari malformation in craniosynostosis. Childs Nerv Syst. 2005;21:889-901 pubmed
    ..In selected cases, treatment of the posterior cranial deformity by occipital vault remodelling and treatment of the Chiari-like deformity by suboccipital decompression can be carried out using the same surgical procedure. ..
  28. Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar Y, Hasanefendioğlu Bayrak A, et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010;87:679-86 pubmed publisher
    ..These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period...
  29. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach K, et al. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet. 2004;74:1209-15 pubmed
    ..In all cases, mutations were found consistently in obligate male carriers, clinically affected males, and affected heterozygous females. We conclude that mutations in EFNB1 cause CFNS. ..
  30. Aldridge K, Kane A, Marsh J, Yan P, Govier D, Richtsmeier J. Relationship of brain and skull in pre- and postoperative sagittal synostosis. J Anat. 2005;206:373-85 pubmed
    ..This suggests that although the brain is affected by manipulation of the skull, it retains a growth pattern that is, at least in part, independent of the skull. ..
  31. Reefhuis J, Honein M, Shaw G, Romitti P. Fertility treatments and craniosynostosis: California, Georgia, and Iowa, 1993-1997. Pediatrics. 2003;111:1163-6 pubmed
    ..2; 95% CI: 0.5-27.3). This is the first study that has found associations between fertility treatments and craniosynostosis. However, the numbers are small; therefore, the results should be viewed with caution. ..
  32. Carinci F, Bodo M, Tosi L, Francioso F, Evangelisti R, Pezzetti F, et al. Expression profiles of craniosynostosis-derived fibroblasts. Mol Med. 2002;8:638-44 pubmed
    ..The cellular phenotype is characterized by abnormal extracellular matrix turnover...
  33. Liu B, Yu H, Hsu W. Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Dev Biol. 2007;301:298-308 pubmed
    ..Finally, haploid deficiency of beta-catenin alleviates the Axin2-null skeletal phenotypes. These findings support a model for disparate roles of beta-catenin in osteoblast proliferation and differentiation. ..
  34. Jehee F, Krepischi Santos A, Rocha K, Cavalcanti D, Kim C, Bertola D, et al. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g. J Med Genet. 2008;45:447-50 pubmed publisher
    ..The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture. ..
  35. Gardner J, Guyard Boileau B, Alderman B, Fernbach S, Greene C, Mangione E. Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis. Int J Epidemiol. 1998;27:64-7 pubmed
    ..Certain nitrosatable drugs may be associated with increased risk of infant sagittal/lambdoid craniosynostosis. A possible mechanism related to ischaemia/reperfusion injury is suggested. ..
  36. Eide P, Helseth E, Due Tønnessen B, Lundar T. Assessment of continuous intracranial pressure recordings in childhood craniosynostosis. Pediatr Neurosurg. 2002;37:310-20 pubmed
    ..Decision-making should also include the computation of the distribution of numbers of ICP elevations, since this procedure represents a more sensitive strategy of detecting intracranial hypertension. ..
  37. Wilkie A, Bochukova E, Hansen R, Taylor I, Rannan Eliya S, Byren J, et al. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A. 2006;140:2631-9 pubmed
    ..In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations. ..
  38. Boltshauser E, Ludwig S, Dietrich F, Landolt M. Sagittal craniosynostosis: cognitive development, behaviour, and quality of life in unoperated children. Neuropediatrics. 2003;34:293-300 pubmed
    ..These reassuring results regarding school performances, behaviour, and quality of life as well as aesthetic outcome may be helpful when discussing the indication for surgical correction of ISC. ..
  39. Anderson P, Cox T, Roscioli T, Elakis G, Smithers L, David D, et al. Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. J Craniofac Surg. 2007;18:312-4 pubmed
    ..Thus, any underlying genetic defects must occur in regions outside those normally implicated in syndromal craniosynostosis, or this disorder could arise as a consequence of some other epigenetic modification...
  40. Hollway G, Suthers G, Battese K, Turner A, David D, Mulley J. Deafness due to Pro250Arg mutation of FGFR3. Lancet. 1998;351:877-8 pubmed
  41. Hinojosa J, Esparza J, García Recuero I, Romance A. [Endoscopically assisted fronto-orbitary correction in trigonocephaly]. Cir Pediatr. 2007;20:33-8 pubmed
  42. Shukla V, Coumoul X, Wang R, Kim H, Deng C. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007;39:1145-50 pubmed
  43. Doherty E, Lacbawan F, Hadley D, Brewer C, Zalewski C, Kim H, et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007;143A:3204-15 pubmed
    ..01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling...
  44. Kweldam C, van der Vlugt J, van der Meulen J. The incidence of craniosynostosis in the Netherlands, 1997-2007. J Plast Reconstr Aesthet Surg. 2011;64:583-8 pubmed publisher
    ..The second aim was to study whether a shift in the proportion of different subtypes of craniosynostosis had taken place in the Netherlands during the study period...
  45. Bonaventure J, El Ghouzzi V. Molecular and cellular bases of syndromic craniosynostoses. Expert Rev Mol Med. 2003;5:1-17 pubmed
    ..The subgroup of syndromic craniosynostoses usually associates limb abnormalities and facial dysmorphism to skull distortion...
  46. Oh A, Greene A, Mulliken J, Rogers G. Prevention of temporal depression that follows fronto-orbital advancement for craniosynostosis. J Craniofac Surg. 2006;17:980-5 pubmed
    ..The temporalis muscle is rotated, advanced, and secured to the bandeau. Bone mush is used to fill the remaining superior coronal and donor site defects. Representative case examples are presented...
  47. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A. 2006;140:104-8; author reply 109-10 pubmed
  48. Ang B, Spivak R, Nah H, Kirschner R. Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. J Craniofac Surg. 2010;21:462-7 pubmed publisher
    ..These mutations may induce craniosynostosis in part through the influence of mutation-induced constitutive signaling in the dura, with subsequent enhancement of dural-mediated osteogenesis...
  49. Maltese G, Tarnow P, Lauritzen C. Spring-assisted correction of hypotelorism in metopic synostosis. Plast Reconstr Surg. 2007;119:977-84 pubmed
    ..The present study was performed to analyze a new technique, capable in this respect, using steel wire springs in conjunction with a cranioplasty...
  50. Greenberg B, Schneider S. Trigonocephaly: surgical considerations and long term evaluation. J Craniofac Surg. 2006;17:528-35 pubmed
    ..The use of resorbable rigid plate fixation combined with alloplastic augmentation has improved the cosmetic outcome in patients treated since 1996 and reduced the reoperative rate...
  51. Barone C, Jimenez D. Endoscopic craniectomy for early correction of craniosynostosis. Plast Reconstr Surg. 1999;104:1965-73; discussion 1974-5 pubmed
    ..16 days versus 5.1 days) were less by using the endoscopic technique. All nine patients treated by using the Marchac technique required a blood transfusion, whereas only one patient was transfused in the endoscopically treated group...
  52. Tubbs R, Elton S, Blount J, Oakes W. Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. Pediatr Neurosurg. 2001;35:136-9 pubmed
  53. Jehee F, Johnson D, Alonso L, Cavalcanti D, de Sá Moreira E, Alberto F, et al. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005;67:503-10 pubmed
    ..We also suggest that genes on the X-chromosome play a major role in syndromic trigonocephaly...
  54. Maruyama T, Mirando A, Deng C, Hsu W. The balance of WNT and FGF signaling influences mesenchymal stem cell fate during skeletal development. Sci Signal. 2010;3:ra40 pubmed publisher
    ..This study identifies endochondral ossification as a mechanism of suture closure during development and implicates this process in craniosynostosis...
  55. Collmann H, Sorensen N, Krauss J. Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst. 2005;21:902-12 pubmed
  56. Tamburrini G, Caldarelli M, Massimi L, Santini P, Di Rocco C. Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst. 2005;21:913-21 pubmed
    ..However, in children with craniosynostosis, the clinical manifestations of abnormally increased ICP are difficult to detect, as the majority of patients may have neither warning signs nor symptoms for a long period of time...
  57. Cooper G, Durham E, Cray J, Bykowski M, DeCesare G, Smalley M, et al. Direct comparison of progenitor cells derived from adipose, muscle, and bone marrow from wild-type or craniosynostotic rabbits. Plast Reconstr Surg. 2011;127:88-97 pubmed publisher
    ..In this article, the authors compare cells isolated from wild-type rabbits or rabbits with nonsyndromic craniosynostosis, defined as the premature fusion of one or more of the cranial sutures...
  58. Smartt J, Karmacharya J, Gannon F, Teixeira C, Mansfield K, Hunenko O, et al. Intrauterine fetal constraint induces chondrocyte apoptosis and premature ossification of the cranial base. Plast Reconstr Surg. 2005;116:1363-9 pubmed
    ..The purpose of these experiments was to test the hypothesis that intrauterine head constraint produces ultrastructural changes in the spheno-occipital synchondroses of fetal mice...
  59. Opperman L, Chhabra A, Cho R, Ogle R. Cranial suture obliteration is induced by removal of transforming growth factor (TGF)-beta 3 activity and prevented by removal of TGF-beta 2 activity from fetal rat calvaria in vitro. J Craniofac Genet Dev Biol. 1999;19:164-73 pubmed
    ..However, those sutures cultured in the presence of neutralizing antibodies to TGF-beta 2 were rescued from osseous obliteration...
  60. Sgouros S, Hockley A, Goldin J, Wake M, Natarajan K. Intracranial volume change in craniosynostosis. J Neurosurg. 1999;91:617-25 pubmed
    ..The authors' goal was to focus on intracranial volume during this period and to compare measurements obtained in patients with craniosynostosis with measurements obtained in healthy individuals...
  61. Temtamy S, Aglan M, Nemat A, Eid M. Expanding the phenotypic spectrum of the Baller-Gerold syndrome. Genet Couns. 2003;14:299-312 pubmed
    ..Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS...
  62. Grosso S, Farnetani M, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, et al. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. Am J Med Genet A. 2003;120A:88-91 pubmed
    ..In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus...
  63. Kotrikova B, Krempien R, Freier K, Mühling J. Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 2007;17:1968-78 pubmed
    b>Craniosynostoses are the most frequent craniofacial malformations...
  64. Lauritzen C, Davis C, Ivarsson A, Sanger C, Hewitt T. The evolving role of springs in craniofacial surgery: the first 100 clinical cases. Plast Reconstr Surg. 2008;121:545-54 pubmed publisher
    ..The use of springs in craniofacial surgery originated at Sahlgrenska University Hospital in 1997 as a way of remodeling the cranial vault postoperatively...
  65. Warschausky S, Angobaldo J, Kewman D, Buchman S, Muraszko K, Azengart A. Early development of infants with untreated metopic craniosynostosis. Plast Reconstr Surg. 2005;115:1518-23 pubmed
    ..The secondary purpose of this study was to examine specific developmental domains such as language and motor skills in children with metopic craniosynostosis...
  66. Kress W, Petersen B, Collmann H, Grimm T. An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet. 2000;91:138-40 pubmed
    ..Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found...
  67. Hinojosa J, Esparza J, Munoz M, Salvan R, Romance A, Alen J, et al. Surgical treatment of trigonocephalies and associated hypoteleorbitism. Neurocirugia (Astur). 2002;13:437-45 pubmed
  68. Argenta L, David L, Thompson J. Clinical classification of positional plagiocephaly. J Craniofac Surg. 2004;15:368-72 pubmed
    ..The technique is highly reproducible, cost effective and readily understandable to the family, as well as referring physicians...
  69. Flapper W, Anderson P, Roberts R, David D. Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 2009;20:1252-5 pubmed publisher
    ..Regular follow-up and comprehensive multidisciplinary management allows for timely identification of any problems and appropriate intervention. This then helps to maximize the overall outcome for these patients...
  70. Rasmussen S, Yazdy M, Frias J, Honein M. Priorities for public health research on craniosynostosis: summary and recommendations from a Centers for Disease Control and Prevention-sponsored meeting. Am J Med Genet A. 2008;146A:149-58 pubmed
    ..The need for improved collaboration among clinical treatment centers and standardization of data collection to address these priorities was emphasized. These priorities will be used to guide future public health research on CS...
  71. Warren S, Brunet L, Harland R, Economides A, Longaker M. The BMP antagonist noggin regulates cranial suture fusion. Nature. 2003;422:625-9 pubmed
    ..Since noggin misexpression prevents cranial suture fusion in vitro and in vivo, we suggest that syndromic fgfr-mediated craniosynostoses may be the result of inappropriate downregulation of noggin expression.
  72. Morritt D, Yeh F, Wall S, Richards P, Jayamohan J, Johnson D. Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases. Plast Reconstr Surg. 2010;126:572-80 pubmed publisher
    ..The Oxford Craniofacial Unit has successfully managed eight cases of isolated sagittal synostosis without scaphocephaly. To the authors' knowledge, there have been no reports of this in the literature...
  73. Anderson P, Netherway D, David D, Self P. Scanning electron microscope and micro-CT evaluation of cranial sutures in health and disease. J Craniofac Surg. 2006;17:909-19 pubmed
  74. Jehee F, Alonso L, Cavalcanti D, Kim C, Wall S, Mulliken J, et al. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J. 2006;43:148-51 pubmed
    ..Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes...
  75. Al Kaissi A, Klaushofer K, Safi H, Chehida F, Ghachem M, Chaabounni M, et al. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?. Am J Med Genet A. 2007;143:349-54 pubmed
    ..Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive...
  76. Graham J, Braddock S, Mortier G, Lachman R, Van Dop C, Jabs E. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet. 1998;77:322-9 pubmed
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    ..We propose that regulation of canonical Wnt signaling is of crucial importance during the physiological patterning of PF and SAG sutures. Importantly, dysregulation of this pathway may lead to craniosynostosis...
  78. Wilkie A, Bochukova E, Hansen R, Taylor I, Rannan Eliya S, Byren J, et al. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A. 2007;143A:1941-9 pubmed
    ..In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations...
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    ..To study the relationship between maternal thyroid disease and craniosynostosis using data from the National Birth Defects Prevention Study, a multisite, case-control study...
  80. Hinojosa J, Esparza J, Munoz M. Endoscopic-assisted osteotomies for the treatment of craniosynostosis. Childs Nerv Syst. 2007;23:1421-30 pubmed
    ..The development of multidisciplinar units for Craniofacial Surgery has led to better postoperative results and a considerable decrease in morbidity in the treatment of complex craniofacial patients...
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    ..Infants with either an identified or a suspected mutation usually need bilateral asymmetric advancement of the bandeau and may be more likely to require frontal revision in childhood...
  82. Keller M, Hermann N, Darvann T, Larsen P, Hove H, Christensen L, et al. Craniofacial morphology in Muenke syndrome. J Craniofac Surg. 2007;18:374-86 pubmed
    ..The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis...
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    ..Maternal age 35 years or older, multiple birth, male sex, and birth weight >4,000 g were risk factors for craniosynostosis...
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    ..The aim of this study was to assess surgical intervention, with particular consideration of the reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome patients...
  87. Bannasch D, Young A, Myers J, Truvé K, Dickinson P, Gregg J, et al. Localization of canine brachycephaly using an across breed mapping approach. PLoS ONE. 2010;5:e9632 pubmed publisher
    ..These results demonstrate that non-segregating traits under strong selection are equally tractable to genetic analysis using small sample numbers...