craniofacial dysostosis

Summary

Summary: Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.

Top Publications

  1. Horbelt C. Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. Gen Dent. 2008;56:132-4 pubmed
  2. Iannetti G, Fadda T, Agrillo A, Poladas G, Iannetti G, Filiaci F. LeFort III advancement with and without osteogenesis distraction. J Craniofac Surg. 2006;17:536-43 pubmed
  3. Nagase T, Nagase M, Hirose S, Ohmori K. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Cleft Palate Craniofac J. 2000;37:78-82 pubmed
    ..To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation...
  4. Lapunzina P, Fernández A, Sánchez Romero J, Delicado A, Sáenz de Pipaón M, Lopez Pajares I, et al. A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol. 2005;73:61-4 pubmed
    ..Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's...
  5. Fearon J. Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment. Plast Reconstr Surg. 2005;115:1524-36 pubmed
    ..Little is known about long-term outcomes after Le Fort III halo distraction, such as indications for distraction, amount of relapse, and long-term maxillary growth...
  6. Hoefkens M, Vermeij Keers C, Vaandrager J. Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. J Craniofac Surg. 2004;15:233-40; discussion 241-2 pubmed
    ..To prevent or treat intracranial hypertension and/or loss of vision, surgical intervention should be performed at the onset of progressive craniosynostosis between 1 and 2 years of age...
  7. Li E, You M, Hristova K. FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. J Mol Biol. 2006;356:600-12 pubmed
    ..We show that this seemingly modest value can lead to a large increase in dimer fraction and thus profoundly affect RTK-mediated signal transduction...
  8. Chang C, Wan L, Tsai C, Lee C, Tsai F. Mutation analysis of Crouzon syndrome in Taiwanese patients. J Clin Lab Anal. 2006;20:23-6 pubmed
    ..A novel missense Ser354Phe substitution at exon IIIc of the human FGFR2 gene was found. According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome...
  9. Lin Y, Liang X, Ai S, Chen C, Liu X, Luo L, et al. FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. Mol Vis. 2012;18:449-54 pubmed
    ..The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features...
  10. Uemura T, Hayashi T, Satoh K, Mitsukawa N, Yoshikawa A, Jinnnai T, et al. A case of improved obstructive sleep apnea by distraction osteogenesis for midface hypoplasia of an infantile Crouzon's syndrome. J Craniofac Surg. 2001;12:73-7 pubmed

Detail Information

Publications90

  1. Horbelt C. Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. Gen Dent. 2008;56:132-4 pubmed
  2. Iannetti G, Fadda T, Agrillo A, Poladas G, Iannetti G, Filiaci F. LeFort III advancement with and without osteogenesis distraction. J Craniofac Surg. 2006;17:536-43 pubmed
  3. Nagase T, Nagase M, Hirose S, Ohmori K. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Cleft Palate Craniofac J. 2000;37:78-82 pubmed
    ..To describe the 22nd case of Crouzan syndrome with acanthosis nigricans, a hyperkeratotic skin disorder with hyperpigmentation...
  4. Lapunzina P, Fernández A, Sánchez Romero J, Delicado A, Sáenz de Pipaón M, Lopez Pajares I, et al. A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol. 2005;73:61-4 pubmed
    ..Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's...
  5. Fearon J. Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment. Plast Reconstr Surg. 2005;115:1524-36 pubmed
    ..Little is known about long-term outcomes after Le Fort III halo distraction, such as indications for distraction, amount of relapse, and long-term maxillary growth...
  6. Hoefkens M, Vermeij Keers C, Vaandrager J. Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. J Craniofac Surg. 2004;15:233-40; discussion 241-2 pubmed
    ..To prevent or treat intracranial hypertension and/or loss of vision, surgical intervention should be performed at the onset of progressive craniosynostosis between 1 and 2 years of age...
  7. Li E, You M, Hristova K. FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. J Mol Biol. 2006;356:600-12 pubmed
    ..We show that this seemingly modest value can lead to a large increase in dimer fraction and thus profoundly affect RTK-mediated signal transduction...
  8. Chang C, Wan L, Tsai C, Lee C, Tsai F. Mutation analysis of Crouzon syndrome in Taiwanese patients. J Clin Lab Anal. 2006;20:23-6 pubmed
    ..A novel missense Ser354Phe substitution at exon IIIc of the human FGFR2 gene was found. According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome...
  9. Lin Y, Liang X, Ai S, Chen C, Liu X, Luo L, et al. FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. Mol Vis. 2012;18:449-54 pubmed
    ..The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features...
  10. Uemura T, Hayashi T, Satoh K, Mitsukawa N, Yoshikawa A, Jinnnai T, et al. A case of improved obstructive sleep apnea by distraction osteogenesis for midface hypoplasia of an infantile Crouzon's syndrome. J Craniofac Surg. 2001;12:73-7 pubmed
  11. Everett E, Britto D, Ward R, Hartsfield J. A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. Cleft Palate Craniofac J. 1999;36:533-41 pubmed
    ..To determine whether specific mutations within the fibroblast growth factor receptor 2 (FGFR2) gene that are associated with Crouzon syndrome can be present in an individual who had been assumed to be "clinically normal."..
  12. Rutland P, Pulleyn L, Reardon W, Baraitser M, Hayward R, Jones B, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995;9:173-6 pubmed
    ..The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation...
  13. Meyers G, Day D, Goldberg R, Daentl D, Przylepa K, Abrams L, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996;58:491-8 pubmed
  14. Bartsch O, Wuyts W, Van Hul W, Hecht J, Meinecke P, Hogue D, et al. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet. 1996;58:734-42 pubmed
    ..The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13...
  15. 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...
  16. Breugem C, Bush K, Fitzpatrick D. Le Fort III rigid external distraction complicated by intracranial movement of halo fixation pins. Cleft Palate Craniofac J. 2008;45:332-6 pubmed publisher
    ..We suggest that a preoperative computed tomography scan is mandatory to accurately delineate the location for placement of the pins...
  17. Murano I. [Crouzon syndrome]. Nihon Rinsho. 2006;Suppl 3:416-7 pubmed
  18. Meyers G, Orlow S, Munro I, Przylepa K, Jabs E. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 1995;11:462-4 pubmed
    ..Our study underscores the biologic complexity of the FGFR gene family...
  19. Kan S, Elanko N, Johnson D, Cornejo Roldan L, Cook J, Reich E, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet. 2002;70:472-86 pubmed
    ..We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot...
  20. Ahmed I, Afzal A. Diagnosis and evaluation of Crouzon syndrome. J Coll Physicians Surg Pak. 2009;19:318-20 pubmed publisher
    ..This report describes the different clinical features in two affected individuals of different families with particular reference to characteristic findings of this syndrome...
  21. Kress W, Collmann H, Busse M, Halliger Keller B, Mueller C. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91:134-7 pubmed
    ..In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa...
  22. Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, et al. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Eur J Pediatr. 2009;168:1135-9 pubmed publisher
    ..In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability...
  23. Kuroda S, Watanabe K, Ishimoto K, Nakanishi H, Moriyama K, Tanaka E. Long-term stability of LeFort III distraction osteogenesis with a rigid external distraction device in a patient with Crouzon syndrome. Am J Orthod Dentofacial Orthop. 2011;140:550-61 pubmed publisher
    ..However, syndrome-specific growth and methodologically induced relapse should be considered when planning a LeFort III distraction in children for the treatment of Crouzon syndrome...
  24. Mitsukawa N, Satoh K, Hayashi T, Furukawa Y, Uemura T, Hosaka Y. A reflectable case of obstructive sleep apnea in an infant with Crouzon syndrome. J Craniofac Surg. 2004;15:874-8; discussion 878-9 pubmed
    ..The authors stress the importance of preoperative care of the upper airway and the early definitive treatment using distraction osteogenesis for midfacial hypoplasia in infantile syndromic craniosynostosis...
  25. Reardon W, Winter R, Rutland P, Pulleyn L, Jones B, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994;8:98-103 pubmed
    ..Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients...
  26. Gosain A, Santoro T, Havlik R, Cohen S, Holmes R. Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions. Plast Reconstr Surg. 2002;109:1797-808 pubmed
    ..Advantages and disadvantages of the respective distraction systems are reviewed to better understand unique patient characteristics leading to the successful use of these devices for correction of severe midface hypoplasia...
  27. Steinberger D, Vriend G, Mulliken J, Muller U. The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet. 1998;102:145-50 pubmed
    ..The changes within these elements affect receptor function by various mechanisms, including altered dimerization, truncation, increased mobility between Ig domains, disintegration of IgIII, and alteration of the ligand-binding site...
  28. Cohen S, Holmes R. Internal Le Fort III distraction with biodegradable devices. J Craniofac Surg. 2001;12:264-72 pubmed
  29. Glaser R, Jiang W, Boyadjiev S, Tran A, Zachary A, Van Maldergem L, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000;66:768-77 pubmed
    ..Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations...
  30. Britto J, Evans R, Hayward R, Jones B. From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes. Plast Reconstr Surg. 2001;108:2026-39; discussion 2040-6 pubmed
    Mutations in the fibroblast growth factor receptor (FGFR) genes 1, 2, and 3 are causal in a number of craniofacial dysostosis syndromes featuring craniosynostosis with basicranial and midfacial deformity...
  31. Matsumoto K, Nakanishi H, Koizumi Y, Seike T, Okazaki M, Yokozeki M, et al. Segmental distraction of the midface in a patient with Crouzon syndrome. J Craniofac Surg. 2002;13:273-8 pubmed
    ..Our modified technique was helpful in increasing the usefulness of the external distraction system and in refining the midface distraction procedure. ..
  32. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009;18:4357-66 pubmed publisher
    ..Hair follicle-like structures were present but showed altered differentiation. Our data indicate that ALX4 plays a critical role both in craniofacial development as in skin and hair follicle development in human. ..
  33. Kim S, Yun B, Song J, Kim S, Wang K. V-Y advancement flaps for scalp closure after acute cranial volume expansion. Ann Plast Surg. 2011;66:249-52 pubmed publisher
    ..The authors attribute these results to scalp closure using a mixture of V-V and V-Y flaps...
  34. Meling T, Høgevold H, Due Tønnessen B, Skjelbred P. Midface distraction osteogenesis: internal vs. external devices. Int J Oral Maxillofac Surg. 2011;40:139-45 pubmed publisher
    ..An external device affords better 3-dimensional control during the distraction process, so external distraction is preferable in patients who will tolerate this treatment. ..
  35. Bellus G, Gaudenz K, Zackai E, Clarke L, Szabo J, Francomano C, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet. 1996;14:174-6 pubmed
    ..Interestingly, this common mutation occurs precisely at the analogous position within the FGFR3 protein as the mutations in FGFR1 (Pro252Arg) and FGFR2 (Pro253Arg) previously reported in Pfeiffer and Apert syndromes, respectively. ..
  36. Ridgway E, Ropper A, Mulliken J, Padwa B, Goumnerova L. Meningoencephalocele: a late complication of Le Fort III midfacial advancement in a patient with Crouzon syndrome. J Neurosurg Pediatr. 2010;6:368-71 pubmed publisher
    ..Attention to the anatomy of the anterior cranial base, as seen on sagittal CT images, will aid in preventing this complication. ..
  37. Hall C, Wu Y, Shaffer L, Hecht J. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin Genet. 2001;60:356-9 pubmed
    ..Our results suggest that genes related to mental retardation and craniofacial development must be located outside of the D11S1785-D11S1385 region...
  38. Múfalo P, Kaizer R, Dalben G, de Almeida A. Comparison of periodontal parameters in individuals with syndromic craniosynostosis. J Appl Oral Sci. 2009;17:13-20 pubmed
    ..Individuals with Pfeiffer syndrome exhibited greater toothbrushing efficiency than individuals with the other craniosynostosis syndromes. ..
  39. Kreiborg S, Cohen M. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg. 2010;21:1354-7 pubmed publisher
    ..Absence of the superior rectus and other extraocular muscles has been recorded. Furthermore, albinoid alterations of the fundus have also been associated with Apert syndrome...
  40. Festa F, Pagnoni M, Valerio R, Rodolfino D, Saccucci M, d Attilio M, et al. Orbital volume and surface after Le Fort III advancement in syndromic craniosynostosis. J Craniofac Surg. 2012;23:789-92 pubmed publisher
  41. Hierl T, Klisch N, Klöppel R, Hemprich A. [Distraction osteogenesis in the treatment of severe midfacial hypoplasia]. Mund Kiefer Gesichtschir. 2003;7:7-13 pubmed
    ..A total of 28 patients presented a velopharyngeal flap and nine patients were almost or fully edentulous. Using an extraoral halo device, distraction was performed after a subtotal Le Fort-I/II/III or modified quadrangular osteotomy...
  42. Sidman J, Tatum S. Distraction osteogenesis. Facial Plast Surg Clin North Am. 2014;22:139-46 pubmed publisher
    ..What role does DO play in craniofacial microsomia? Is endoscopic DO better than open procedures for synostosis management? How has your technique changed or evolved over the past 5 years and what has doing this technique taught you?..
  43. Hollier L, Kelly P, Babigumira E, Potochny J, Taylor T. Minimally invasive Le Fort III distraction. J Craniofac Surg. 2002;13:44-8 pubmed
    Recent applications of distraction osteogenesis to the Le Fort III osteotomy in patients with craniofacial dysostosis have proven promising (1-3)...
  44. Fearon J. The Le Fort III osteotomy: to distract or not to distract?. Plast Reconstr Surg. 2001;107:1091-103; discussion 1104-6 pubmed
  45. Cobb A, Vourvachis M, Ahmed J, Wyatt M, Dunaway D, Hayward R. Aberrant facial flushing following monobloc fronto-facial distraction. J Craniomaxillofac Surg. 2015;43:1511-5 pubmed publisher
  46. Raybaud C, Di Rocco C. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 2007;23:1379-88 pubmed
    ..However, whether these abnormalities are secondary to the bone disease or primary (e.g. callosal agenesis) is still controversial. Recent evidence suggests that the white matter defect might be a primary disorder...
  47. Cruz A, Akaishi P, Arnaud E, Marchac D, Renier D. Exorbitism correction of faciocraniosynostoses by monobloc frontofacial advancement with distraction osteogenesis. J Craniofac Surg. 2007;18:355-60 pubmed
    ..60). Overall, the data suggest that a certain degree of enophthalmos in the early postoperative period does not necessarily imply a sustained overcorrection...
  48. Dickerman R, Lefkowitz M, Arinsburg S, Schneider S. Chiari malformation and odontoid panus causing craniovertebral stenosis in a child with Crouzon's syndrome. J Clin Neurosci. 2005;12:963-6 pubmed
    ..We review the literature on surgical options for decompression at the craniocervical junction and offer our surgical case as a treatment option for patients in this rare clinical situation...
  49. Mustafa D, Lucas V, Junod P, Evans R, Mason C, Roberts G. The dental health and caries-related microflora in children with craniosynostosis. Cleft Palate Craniofac J. 2001;38:629-35 pubmed
    ..To compare levels of dental caries, bacterial dental plaque, gingivitis, enamel defects, and caries-related microflora in children with and without craniosynostosis...
  50. Di Rocco F, Jucá C, Arnaud E, Renier D, Sainte Rose C. The role of endoscopic third ventriculostomy in the treatment of hydrocephalus associated with faciocraniosynostosis. J Neurosurg Pediatr. 2010;6:17-22 pubmed publisher
    ..The aim of this study was to assess the efficacy of endoscopic third ventriculostomy (ETV) in the treatment of hydrocephalus in children with complex craniosynostosis...
  51. Slaney S, Goodman F, Eilers Walsman B, Hall B, Williams D, Young I, et al. Acromelic frontonasal dysostosis. Am J Med Genet. 1999;83:109-16 pubmed
  52. Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos Bueno M. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A. 2010;152A:2599-603 pubmed publisher
    ..The clinical impact of this latter finding still remains to be elucidated. Further studies are necessary to address more precisely the role of cathepsin K in suture patency...
  53. Shanske A. Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk. AIDS. 2012;26:1775-9 pubmed publisher
    ..Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz...
  54. Mardini S, See L, Lo L, Salgado C, Chen Y. Intracranial space, brain, and cerebrospinal fluid volume measurements obtained with the aid of three-dimensional computerized tomography in patients with and without Crouzon syndrome. J Neurosurg. 2005;103:238-46 pubmed
  55. Mu X, Ji J, Wang Y, Zhang R, Wei M, Feng S, et al. [Surgical correction of exophthalmos in craniofacial synostosis]. Zhonghua Yan Ke Za Zhi. 2004;40:380-4 pubmed
    ..To analyze the efficacy and complications of the surgical correction of exophthalmos in craniofacial synostosis...
  56. Pandolfi P, Roth M, Karis A, Leonard M, Dzierzak E, Grosveld F, et al. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nat Genet. 1995;11:40-4 pubmed
    ..c.) and display massive internal bleeding, marked growth retardation, severe deformities of the brain and spinal cord, and gross aberrations in fetal liver haematopoiesis...
  57. Antón Pacheco Sánchez J, Villafruela Sanz M, Cuadros García J, Luna Paredes C, Martinez Gimeno A, Berchi García F. [Complete congenital cartilaginous trachea in a girl with Crouzon's syndrome]. An Esp Pediatr. 2001;54:86-8 pubmed
    ..Complete cartilaginous trachea is very rare and is always associated with craniosynostotic syndromes. Tracheobronchial anomalies should be investigated in patients whose respiratory symptoms are not due to upper airway obstruction...
  58. Harper J, Wells D, Piyamongkol W, Abou Sleiman P, Apessos A, Ioulianos A, et al. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn. 2002;22:525-33 pubmed
  59. David L, Velotta E, Weaver R, Wilson J, Argenta L. Clinical findings precede objective diagnostic testing in the identification of increased ICP in syndromic craniosynostosis. J Craniofac Surg. 2002;13:676-80 pubmed
    ..In cases such as these, long-term follow-up is essential because of the progressive nature of the disorder as well as the possibility of a recurrence of elevated intracranial pressure and a need for secondary decompressive surgery...
  60. Mavili M, Tuncbilek G, Vargel I. Rigid external distraction of the midface with direct wiring of the distraction unit in patients with craniofacial dysplasia. J Craniofac Surg. 2003;14:783-5 pubmed
    ..The authors did not have any problems with the wire traction unit, such as wire breakdown or bony tunnel disruption. It is a cheap, simple, and effective configuration that can be easily performed without any complication...
  61. Sinn D, Cillo J, Miles B. Stereolithography for craniofacial surgery. J Craniofac Surg. 2006;17:869-75 pubmed
    ..This review will highlight the development and current usage of stereolithography in craniofacial surgery and provide illustration of it use...
  62. Golbert M, Dewes L, Philipsen V, Wachholz R, Deutschendorf C, Leite J. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin Dysmorphol. 2007;16:85-8 pubmed
    ..A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described...
  63. Al Otibi M, Jea A, Kulkarni A. Detection of important venous collaterals by computed tomography venogram in multisutural synostosis. Case report and review of the literature. J Neurosurg. 2007;107:508-10 pubmed
    ..Computed tomography venography is an easily obtained study that we recommend in the evaluation of children with multisutural craniosynostosis prior to cranial surgical interventions...
  64. Chaabouni M, Maazoul F, Ben Hamida A, Berhouma M, Marrakchi Z, Chaabouni H. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. Am J Med Genet A. 2008;146A:1825-7 pubmed publisher
    ..Facial midline anomalies associated with limb and genitourinary anomalies is very uncommon. We present the third case reported in the literature...
  65. Watanabe Y, Akizuki T. Prevention and treatment of penicillin-resistant Streptococcus pneumoniae meningitis after intracraniofacial surgery with distraction osteogenesis. J Craniofac Surg. 2008;19:1542-8 pubmed publisher
    ..Our experience suggests that these measures will facilitate a successful outcome in frontofacial distraction osteogenesis...
  66. Basel D, Sklar D, Viljoen D. A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly. Am J Med Genet A. 2005;136A:354-6 pubmed
  67. 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...
  68. Tholpady S, Abdelaal M, Dufresne C, Gampper T, Lin K, Jane J, et al. Aberrant bony vasculature associated with activating fibroblast growth factor receptor mutations accompanying Crouzon syndrome. J Craniofac Surg. 2004;15:431-5; discussion 436-8 pubmed
    ..This finding could be a result of abnormal blood vessel development caused by the fibroblast growth factor receptor mutation occurring before and coincident with bone formation and leading to weakened and fragile bone tissue...
  69. Scapoli L, Martinelli M, Pezzetti F, Carahelli E, Carinci F, Cenzi R, et al. Spontaneous expression of FRA3P in a patient with Nager syndrome. Am J Med Genet A. 2003;118A:293-5 pubmed
  70. Brettell D, Ooi K, Bank A, Gianoutsos M. Orbital emphysema following removal of bilateral midfacial implants. Orbit. 2011;30:311-2 pubmed publisher
    ..Further investigation revealed right inferior orbital emphysema, caused by the intra-operative entrance of hydrogen peroxide through a suspected perforation of the orbital septum. The symptoms settled with conservative management...
  71. Caterson E, Shetye P, Grayson B, McCarthy J. Surgical management of patients with a history of early Le Fort III advancement after they have attained skeletal maturity. Plast Reconstr Surg. 2013;132:592e-601e pubmed publisher
    ..This study reports on a cohort of syndromic craniosynostosis patients who have undergone early primary subcranial (classic Tessier) Le Fort III advancement and who have been followed longitudinally through skeletal maturity and beyond...