acrocephalosyndactylia

Summary

Summary: Congenital craniostenosis with syndactyly.

Top Publications

  1. Firulli B, Krawchuk D, Centonze V, Vargesson N, Virshup D, Conway S, et al. Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. Nat Genet. 2005;37:373-81 pubmed publisher
  2. Anderson P, Tan E, David D. Simultaneous multiple vector distraction for craniosynostosis syndromes. Br J Plast Surg. 2005;58:626-31 pubmed
  3. Goriely A, McVean G, van Pelt A, O rourke A, Wall S, de Rooij D, et al. Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci U S A. 2005;102:6051-6 pubmed
    ..Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms. ..
  4. Carver E, Oram K, Gridley T. Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. Anat Rec. 2002;268:90-2 pubmed
  5. Martinez Abadias N, Percival C, Aldridge K, Hill C, Ryan T, Sirivunnabood S, et al. Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 2010;239:3058-71 pubmed publisher
    ..Our results demonstrate that coronal suture closure is neither the primary nor the sole locus of skull dysmorphology in these mouse models for Apert syndrome, but that the face is also primarily affected. ..
  6. 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
  7. Holmes G, Basilico C. Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. Dev Biol. 2012;368:283-93 pubmed publisher
    ..We eliminate postulated roles for dura mater or skull base changes in craniosynostosis. The viability of conditionally mutant mice also allows post-natal assessment of other aspects of Apert syndrome. ..
  8. Wilkie A, Patey S, Kan S, van den Ouweland A, Hamel B. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002;112:266-78 pubmed
    ..A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. ..
  9. Lemonnier J, Hay E, Delannoy P, Fromigue O, Lomri A, Modrowski D, et al. Increased osteoblast apoptosis in apert craniosynostosis: role of protein kinase C and interleukin-1. Am J Pathol. 2001;158:1833-42 pubmed
    ..This identifies a complex FGFR-2 signaling pathway involved in the premature apoptosis induced by the Apert S252W FGFR-2 mutation in human calvaria osteoblasts. ..

More Information

Publications75

  1. Baroni T, Carinci P, Lilli C, Bellucci C, Aisa M, Scapoli L, et al. P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. J Cell Physiol. 2005;202:524-35 pubmed
    ..All together these findings suggest increased constitutive receptor activity in Apert mutant osteoblasts and an autocrine loop involving the FGF2 pathway in modulation of Apert osteoblast behavior. ..
  2. Teebi A, Kennedy S, Chun K, Ray P. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet. 2002;107:43-7 pubmed
    ..Speculation on the molecular mechanisms that cause severe and mild phenotypes is presented in relation to these two cases. ..
  3. Panthaki Z, Armstrong M. Hand abnormalities associated with craniofacial syndromes. J Craniofac Surg. 2003;14:709-12 pubmed
    ..We hope that this overview serves to give the pediatrician and the craniofacial specialist general guidelines for what to look for and expect in the hands and upper extremities of children under their care. ..
  4. 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...
  5. Goriely A, McVean G, Röjmyr M, Ingemarsson B, Wilkie A. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301:643-6 pubmed
    ..We propose that these FGFR2 mutations, although harmful to embryonic development, are paradoxically enriched because they confer a selective advantage to the spermatogonial cells in which they arise. ..
  6. Choi S, Yoon S, Calabrese P, Arnheim N. A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations. Proc Natl Acad Sci U S A. 2008;105:10143-8 pubmed publisher
    ..In addition, we compared the anatomical distribution of C758G mutation foci with both new and old data on the C755G mutation in the same testis and found their positions were not correlated with one another...
  7. Moloney D. Hunterian Lecture. What can we learn about mechanisms of mutation from a study of craniosynostosis?. Ann R Coll Surg Engl. 2001;83:1-9 pubmed
  8. Ibrahimi O, Chiu E, McCarthy J, Mohammadi M. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg. 2005;115:264-70 pubmed
    ..In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications...
  9. Woods R, ul Haq E, Wilkie A, Jayamohan J, Richards P, Johnson D, et al. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg. 2009;123:1801-10 pubmed publisher
    ..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...
  10. Hackett A, Rowe L. FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. Clin Dysmorphol. 2006;15:207-10 pubmed
    ..The absence of craniosynostosis should not preclude the consideration of FGFR mutation analysis in cases in which digital features are characteristic of the craniosynostosis syndromes...
  11. Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, et al. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn. 2004;24:918-22 pubmed
    ..We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull...
  12. Gripp K, Zackai E, Cohen M. Clinical and molecular diagnosis should be consistent. Am J Med Genet A. 2003;121A:188-9 pubmed
  13. Murnaghan L, Thurgur C, Forster B, Sawatzky B, Hawkins R, Tredwell S. A clinicoradiologic study of the shoulder in Apert syndrome. J Pediatr Orthop. 2007;27:838-43 pubmed
    ..To provide a comprehensive radiographic, clinical, and functional description of the shoulder in Apert syndrome...
  14. Wang Y, Xiao R, Yang F, Karim B, Iacovelli A, Cai J, et al. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005;132:3537-48 pubmed
    ..Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype...
  15. Britto J, Evans R, Hayward R, Jones B. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion. Cleft Palate Craniofac J. 2002;39:332-40 pubmed
    ..We report the relative expression of these genes in human palatogenesis...
  16. Yousfi M, Lasmoles F, El Ghouzzi V, Marie P. Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation. Hum Mol Genet. 2002;11:359-69 pubmed
  17. 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...
  18. Rynearson R. Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome. Angle Orthod. 2000;70:247-52 pubmed
    ..This is a case report of an Apert's syndrome patient with a discussion of the orthodontic and dentofacial orthopedic considerations that influenced the treatment plan...
  19. Wang Y, Sun M, Uhlhorn V, Zhou X, Peter I, Martinez Abadias N, et al. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol. 2010;10:22 pubmed publisher
    ..We previously reported an inbred transgenic mouse model with the Fgfr2 +/S252W mutation on the C57BL/6J background for Apert syndrome. Here we present a mouse model for the Fgfr2+/P253R mutation...
  20. Purushothaman R, Cox T, Maga A, Cunningham M. Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes. Birth Defects Res A Clin Mol Teratol. 2011;91:603-9 pubmed publisher
    ..Our results indicate that midfacial hypoplasia is not secondary to premature cranial base ossification but rather primary synostosis of facial sutures. Birth Defects Research (Part A), 2011...
  21. McHugh T, Wyers M, King E. MRI characterization of the glenohumeral joint in Apert syndrome. Pediatr Radiol. 2007;37:596-9 pubmed
    ..The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head...
  22. Fanganiello R, Sertie A, Reis E, Yeh E, Oliveira N, Bueno D, et al. Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med. 2007;13:422-42 pubmed
  23. Zhou Y, Xu X, Chen L, Li C, Brodie S, Deng C. A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet. 2000;9:2001-8 pubmed
  24. Hajihosseini M, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci U S A. 2001;98:3855-60 pubmed
    ..This phenotype has strong parallels to some Apert's and Pfeiffer's syndrome patients...
  25. Yang F, Wang Y, Zhang Z, Hsu B, Jabs E, Elisseeff J. The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model. Bone. 2008;43:55-63 pubmed publisher
    ..Complementary to in vivo findings, this 3D hydrogel culture system provides an effective in vitro venue to study the pathogenesis of Apert syndrome caused by the analogous mutation in humans...
  26. Nascimento S, de Mello M, Batista J, Balarin M, Lopes V. Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations. Cleft Palate Craniofac J. 2004;41:250-5 pubmed
    ..To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS)...
  27. Britto J, Moore R, Evans R, Hayward R, Jones B. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes. J Neurosurg. 2001;95:660-73 pubmed
    ..In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses...
  28. Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, et al. Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis. J Craniofac Surg. 2001;12:580-5 pubmed
    ..Moreover, in Japanese Apert patients, complication rate of cleft palate was 60% for mutation of Ser252Trp and 0 of 2 patients for Pro253Arg, with their syndactyly score being 4.90 and 5.50, respectively...
  29. El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier Daire V, Renier D, Munnich A, et al. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet. 1999;7:27-33 pubmed
    ..Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome...
  30. Miraoui H, Oudina K, Petite H, Tanimoto Y, Moriyama K, Marie P. Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling. J Biol Chem. 2009;284:4897-904 pubmed publisher
    ..The promoting effect of WT and MT FGFR2 is mediated by ERK1/2 and PKCalpha pathways that play essential and distinct roles in FGFR2-induced osteogenic differentiation of mesenchymal cells...
  31. Coussens A, Hughes I, Wilkinson C, Morris C, Anderson P, Powell B, et al. Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach. Differentiation. 2008;76:531-45 pubmed
    ..The same pattern of differential expression was observed in each case, further validating the ability of our in vivo-in vitro approach to identify genes involved in in vivo human calvarial tissue differentiation...
  32. Wheldon L, Khodabukus N, Patey S, Smith T, Heath J, Hajihosseini M. Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model. Biochem J. 2011;436:71-81 pubmed publisher
    ..Moreover, our findings raise the interesting possibility that FGFR2 signalling may be a regulator of the NMD pathway...
  33. Mansukhani A, Bellosta P, Sahni M, Basilico C. Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. J Cell Biol. 2000;149:1297-308 pubmed
    ..These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts...
  34. Rice D, Aberg T, Chan Y, Tang Z, Kettunen P, Pakarinen L, et al. Integration of FGF and TWIST in calvarial bone and suture development. Development. 2000;127:1845-55 pubmed
    ..We propose a model of osteoblast differentiation integrating Twist and FGF in the same pathway, in which FGF acts both at early and late stages. Disruption of this pathway may lead to craniosynostosis...
  35. Aldridge K, Hill C, Austin J, Percival C, Martinez Abadias N, Neuberger T, et al. Brain phenotypes in two FGFR2 mouse models for Apert syndrome. Dev Dyn. 2010;239:987-97 pubmed publisher
    ..Our hypothesis is that the skull and brain are both primarily affected in craniosynostosis and that shared phenogenetic developmental processes affect both tissues in craniosynostosis of Apert syndrome...
  36. Paravatty R, Ahsan A, Sebastian B, Pai K, Dayal P. Apert syndrome: a case report with discussion of craniofacial features. Quintessence Int. 1999;30:423-6 pubmed
    ..It has characteristic features in the orofacial region, affecting the eyes, palate, middle third of face, and uvula. In this case report, the features of Apert syndrome, particularly in relation to the orofacial region, are discussed...
  37. Maia A, da Silva J, Mencalha A, Caffarena E, Abdelhay E. Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants. BMC Bioinformatics. 2012;13:184 pubmed publisher
    ..We also explored the behavior of the mutant forms in aqueous solution using molecular dynamics (MD) simulations, focusing on the structural changes of the wild-type versus mutant dimers...
  38. Martinez Abadias N, Heuzé Y, Wang Y, Jabs E, Aldridge K, Richtsmeier J. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. PLoS ONE. 2011;6:e26425 pubmed publisher
    ..As this pathway evolved early in vertebrate evolution, it may have played a significant role in establishing the patterns of skull MI and coordinating proper skull development...
  39. Bochukova E, Roscioli T, Hedges D, Taylor I, Johnson D, David D, et al. Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat. 2009;30:204-11 pubmed publisher
  40. Kress W, Schropp C, Lieb G, Petersen B, Büsse Ratzka M, Kunz J, et al. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet. 2006;14:39-48 pubmed
    ..Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development...
  41. Glaser R, Broman K, Schulman R, Eskenazi B, Wyrobek A, Jabs E. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet. 2003;73:939-47 pubmed
    ..No age-related increase in the frequency of these mutations was observed in leukocytes. Selection and/or quality-control mechanisms, including DNA repair and apoptosis, may contribute to the cell-type differences in mutation frequency...
  42. Ibrahimi O, Eliseenkova A, Plotnikov A, Yu K, Ornitz D, Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci U S A. 2001;98:7182-7 pubmed
    ..Furthermore, the distinct gain-of-function interactions observed in each crystal structure provide a model to explain the phenotypic variability among AS patients...
  43. 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...
  44. Guenou H, Kaabeche K, Mée S, Marie P. A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. Hum Mol Genet. 2005;14:1429-39 pubmed
    ..This provides genetic and biochemical evidence for a role of Fgfr2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the SCS...
  45. Oram K, Gridley T. Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. Genetics. 2005;170:971-4 pubmed
  46. 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...
  47. Rossi M, Jones R, Norbury G, Bloch Zupan A, Winter R. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. Clin Dysmorphol. 2003;12:269-74 pubmed
    ..We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome. In one family this was the only abnormality...
  48. Hajihosseini M, Duarte R, Pegrum J, Donjacour A, Lana Elola E, Rice D, et al. Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. Dev Dyn. 2009;238:376-85 pubmed publisher
    ..These findings strongly suggest that Fgf10 contributes to AS-like pathologies and highlight a complexity of Fgf10 function in different tissues...
  49. Glaser R, Jabs E. Dear old dad. Sci Aging Knowledge Environ. 2004;2004:re1 pubmed
    ..We also discuss recent data on age and the frequency of these mutations in the human male germ line and the impact of these data on this field of research...
  50. Sannomiya E, Reis S, Asaumi J, Silva J, Barbara A, Kishi K. Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome. Dentomaxillofac Radiol. 2006;35:119-24 pubmed
    ..The surgical model allowed the analysis of some abnormalities regarding to calvaria morphology, nasal bones and maxilla, improving the criteria for a case diagnosis and surgical plan...
  51. El Ghouzzi V, Legeai Mallet L, Benoist Lasselin C, Lajeunie E, Renier D, Munnich A, et al. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett. 2001;492:112-8 pubmed
  52. Du X, Weng T, Sun Q, Su N, Chen Z, Qi H, et al. Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat. 2010;217:97-105 pubmed publisher
    ..The changes in form characterized in this study will help to elucidate the mechanisms through which the Pro253Arg mutation in fibroblast growth factor receptor 2 affects craniofacial development and causes Apert syndrome...
  53. Chun K, Teebi A, Jung J, Kennedy S, Laframboise R, Meschino W, et al. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002;110:136-43 pubmed
  54. Yacubian Fernandes A, Palhares A, Giglio A, Gabarra R, Zanini S, Portela L, et al. Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment. J Neuroradiol. 2004;31:116-22 pubmed
    Apert Syndrome, also called acrocephalosyndactylia type 1, is characterized by craniostenosis with early fusion of sutures of the vault and/or cranial base, associated to mid-face hypoplasia, symmetric syndactylia of the hands and feet ..
  55. Hockstein N, McDonald McGinn D, Zackai E, Bartlett S, Huff D, Jacobs I. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg. 2004;130:1298-302 pubmed
    ..To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome...
  56. Yano H, Tanaka K, Sueyoshi O, Takahashi K, Hirata R, Hirano A. Cranial vault distraction: its illusionary effect and limitation. Plast Reconstr Surg. 2006;117:193-200; discussion 201 pubmed
    ..These patients also had so much bone defect that the donor bone was inadequate for immediate revisions, and dissection under the scalp was complicated...
  57. Yin L, Du X, Li C, Xu X, Chen Z, Su N, et al. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone. 2008;42:631-43 pubmed publisher
    ..And the Erk1/2 signaling pathway partially mediated the effects of P253R mutation of Fgfr2 on cranial sutures and long bones...
  58. Batra P, Duggal R, Parkash H. Dentofacial characteristics in Apert syndrome: a case report. J Indian Soc Pedod Prev Dent. 2002;20:118-23 pubmed
    ..A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted...
  59. Coussens A, Wilkinson C, Hughes I, Morris C, van Daal A, Anderson P, et al. Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. BMC Genomics. 2007;8:458 pubmed
    ..Expression differences were also analysed between each unfused suture type, between sutures from syndromic and non-syndromic craniosynostosis patients, and between unfused sutures from individuals with and without craniosynostosis...
  60. Sarimski K. Social adjustment of children with a severe craniofacial anomaly (Apert syndrome). Child Care Health Dev. 2001;27:583-90 pubmed
    ..Children with a severe craniofacial anomaly are at risk for emotional and behavioural problems. Do children with Apert syndrome present with a special psychological profile?..
  61. Weingart D, Roser M, Lantos P. [Mid-face distraction after LeFort III osteotomy in craniofacial dysmorphism]. Mund Kiefer Gesichtschir. 2001;5:221-6 pubmed
    ..There appear to be significant advantages in using distraction osteogenesis of the midface after surgery...
  62. Meazzini M, Mazzoleni F, Caronni E, Bozzetti A. Le Fort III advancement osteotomy in the growing child affected by Crouzon's and Apert's syndromes: presurgical and postsurgical growth. J Craniofac Surg. 2005;16:369-77 pubmed
    ..This study might also serve as a control sample to compare with groups of patients undergoing distraction osteogenesis to verify the actual advantages and shortcomings of this alternative technique...
  63. Gripp K, Zackai E, Stolle C. Mutations in the human TWIST gene. Hum Mutat. 2000;15:150-5 pubmed
    ..1998]. The gene deletions and numerous nonsense mutations are suggestive of haploinsufficiency as the disease-causing mechanism. No genotype phenotype correlation was apparent...
  64. 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...
  65. Jenkins D, Seelow D, Jehee F, Perlyn C, Alonso L, Bueno D, et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007;80:1162-70 pubmed
  66. Corsi A, Brodigan T, Jorgensen E, Krause M. Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome. Development. 2002;129:2761-72 pubmed
    ..elegans protein. These data suggest that Saethre-Chotzen syndrome may be caused, in some cases, by dominant negative proteins, rather than by haploinsufficiency of the locus...