craniofacial dysostosis


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...

More Information


  1. 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
  2. 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."..
  3. 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...
  4. 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
  5. 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...
  6. 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...
  7. 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...
  8. Murano I. [Crouzon syndrome]. Nihon Rinsho. 2006;Suppl 3:416-7 pubmed
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. Cohen S, Holmes R. Internal Le Fort III distraction with biodegradable devices. J Craniofac Surg. 2001;12:264-72 pubmed
  20. 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...
  21. Ohmori M, Kamio H, Inokuchi K, Tsutsumi H, Fujimura A. Recurrence of bacterial meningitis in a patient with Crouzon syndrome and pseudomeningocele. South Med J. 2002;95:780-1 pubmed
  22. Kawa Karasik S, Saavedra Ontiveros M, Morán Barroso V, Thompson Chagoyan O, Cornejo Roldań L, Fuente del C. [Views of the human genome in Congenital malformations]. Gac Med Mex. 2003;139:234-54 pubmed
  23. Cohen M. No man's craniosynostosis: the arcana of sutural knowledge. J Craniofac Surg. 2012;23:338-42 pubmed publisher
  24. Fernandez Gonzalez N, Prieto Espuñes S, Ibañez Fernandez A, Fernandez Colomer B, Lopez Sastre J, Fernandez Toral J. [Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas]. An Esp Pediatr. 2002;57:249-52 pubmed
    ..2 --> qter), which confirmed Jacobsen syndrome.A wide spectrum of clinical features is described in Jacobsen syndrome, with phenotype-karyotype correlation. This is the first report of duodenal atresia and annular pancreas. ..
  25. 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...
  26. 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. ..
  27. Qvist J, Hove H, Welling K, Kreiborg S. [Severe obstructive sleep apnea in a child with craniofacial anomaly]. Ugeskr Laeger. 2004;166:2910-2 pubmed
  28. 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. ..
  29. 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...
  30. Farkas L, Forrest C. Changes in anthropometric values of paired craniofacial measurements of patients with right coronal synostosis. Ann Plast Surg. 2006;56:427-30 pubmed
    ..The most remarkable changes between infancy and early childhood were noted in the orbital region, in which subnormal eye fissure lengths became bilaterally normal in both sexes. ..
  31. Eley K, Witherow H, Hayward R, Evans R, Young K, Clark A, et al. The evaluation of bony union after frontofacial distraction. J Craniofac Surg. 2009;20:275-8 pubmed publisher
    ..This preliminary study confirms the clinical impression that bone formation after distraction is greatest in the pterygoid regions. The clinical implications of these findings are discussed. ..
  32. Stavropoulos D, Bartzela T, Tarnow P, Mohlin B, Kahnberg K, Hagberg C. Dental agenesis patterns in Crouzon syndrome. Swed Dent J. 2011;35:195-201 pubmed
    ..It is important to be aware of this clinical situation, especially when orthodontic treatment planning for these patients is performed as early as in the mixed dentition. ..
  33. Runyan C, Xu W, Alperovich M, Massie J, Paek G, Cohen B, et al. Minor Suture Fusion in Syndromic Craniosynostosis. Plast Reconstr Surg. 2017;140:434e-445e pubmed publisher
    Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies...
  34. Klammert U, Böhm H, Schweitzer T, Würzler K, Gbureck U, Reuther J, et al. Multi-directional Le Fort III midfacial distraction using an individual prefabricated device. J Craniomaxillofac Surg. 2009;37:210-5 pubmed publisher
    ..The technique presented should be useful for a precise multi-directional midfacial distraction following Le Fort III osteotomy. ..
  35. 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. ..
  36. Mahore A, Shah A, Nadkarni T, Goel A. Craniofrontonasal dysplasia associated with Chiari malformation. J Neurosurg Pediatr. 2010;5:375-9 pubmed publisher
    ..A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented. ..
  37. de Jong T, van Veelen M, Mathijssen I. Spring-assisted posterior vault expansion in multisuture craniosynostosis. Childs Nerv Syst. 2013;29:815-20 pubmed publisher
    ..Spring-assisted posterior vault expansion has some advantages over the conventional technique and is, therefore, the preferred technique in our center. ..
  38. 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. ..
  39. Herrmann B, Karzon R, Molter D. Otologic and audiologic features of Nager acrofacial dysostosis. Int J Pediatr Otorhinolaryngol. 2005;69:1053-9 pubmed
    ..Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended. ..
  40. Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. PLoS ONE. 2013;8:e56521 pubmed publisher
    ..The results presented here provide new knowledge about the physical basis behind growth disorders and highlight the fact that a single RTK mutation may affect multiple steps in RTK activation. ..
  41. 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. ..
  42. Ko K. Superimposed holographic image-guided neurosurgery. Technical note. J Neurosurg. 1998;88:777-81 pubmed
    ..To the author's knowledge, this is the first report of the superimposed holographic image used in situ during surgery. ..
  43. Sadrimanesh R, Hassani A, Vahdati S, Chaghari H, Sadr Eshkevari P, Rashad A. Freeman-Sheldon syndrome: combined surgical and non-surgical approach. J Craniomaxillofac Surg. 2013;41:397-402 pubmed publisher
    ..The use of bilateral commissuroplasty in combination with this customized dynamic oral commissure retractor may be applicable in other syndromic patients with a small oral commissure and also in patients with circumoral burns. ..
  44. 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...
  45. 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. ..
  46. Thauvin Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier Daire V, et al. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. Prenat Diagn. 2002;22:710-4 pubmed
    ..This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD. ..
  47. Stavropoulos D, Hallberg U, Mohlin B, Hagberg C. Living with Crouzon syndrome: how do young adults with Crouzon syndrome handle their life situation?. Int J Paediatr Dent. 2011;21:35-42 pubmed publisher
    ..The more the participants in the study used the coping strategies they had developed over time, the better they handled their life situation, which led to enhanced well-being. ..
  48. Naique S, Laheri V. Stenosis of the cervical canal in craniodiaphyseal dysplasia. J Bone Joint Surg Br. 2001;83:328-31 pubmed
    ..Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders. ..
  49. 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...
  50. 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
  51. 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...
  52. 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?..
  53. 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)...
  54. Fearon J. The Le Fort III osteotomy: to distract or not to distract?. Plast Reconstr Surg. 2001;107:1091-103; discussion 1104-6 pubmed
  55. 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
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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
  62. 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...
  63. 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...
  64. 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
  65. 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...
  66. 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...
  67. 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...
  68. 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
  69. 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...
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. 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...
  76. 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
  77. 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...
  78. 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...
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  80. 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...
  81. 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...