acrocephalosyndactylia

Summary

Summary: Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Top Publications

  1. pmc Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities
    Beth A Firulli
    Wells Center for Pediatric Research, James Whitcomb Riley Hospital for Children, Department of Pediatrics, Indiana Medical School, 1044 W Walnut R4 371, Indianapolis, Indiana 46202 5225, USA
    Nat Genet 37:373-81. 2005
  2. ncbi Mutations of the TWIST gene in the Saethre-Chotzen syndrome
    V El Ghouzzi
    Unité Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Institut Necker, Paris, France
    Nat Genet 15:42-6. 1997
  3. ncbi Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 9:165-72. 1995
  4. ncbi Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
    Yingli Wang
    Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA
    Development 132:3537-48. 2005
  5. ncbi Integration of FGF and TWIST in calvarial bone and suture development
    D P Rice
    Institute of Biotechnology and Institute of Dentistry, PO Box 56, Finland
    Development 127:1845-55. 2000
  6. ncbi Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    Anne Goriely
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK
    Science 301:643-6. 2003
  7. pmc Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth
    Neus Martínez-Abadías
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16803, USA
    Dev Dyn 239:3058-71. 2010
  8. pmc Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome
    Kathleen F Oram
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genetics 170:971-4. 2005
  9. ncbi Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling
    Hichem Miraoui
    INSERM U606, Paris, France
    J Biol Chem 284:4897-904. 2009
  10. pmc Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice
    Yingli Wang
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    BMC Dev Biol 10:22. 2010

Research Grants

Detail Information

Publications177 found, 100 shown here

  1. pmc Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities
    Beth A Firulli
    Wells Center for Pediatric Research, James Whitcomb Riley Hospital for Children, Department of Pediatrics, Indiana Medical School, 1044 W Walnut R4 371, Indianapolis, Indiana 46202 5225, USA
    Nat Genet 37:373-81. 2005
    ....
  2. ncbi Mutations of the TWIST gene in the Saethre-Chotzen syndrome
    V El Ghouzzi
    Unité Recherches sur les Handicaps Génétiques de l Enfant INSERM U 393, Institut Necker, Paris, France
    Nat Genet 15:42-6. 1997
    ....
  3. ncbi Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 9:165-72. 1995
    ..The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis...
  4. ncbi Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
    Yingli Wang
    Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA
    Development 132:3537-48. 2005
    ..Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype...
  5. ncbi Integration of FGF and TWIST in calvarial bone and suture development
    D P Rice
    Institute of Biotechnology and Institute of Dentistry, PO Box 56, Finland
    Development 127:1845-55. 2000
    ..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...
  6. ncbi Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    Anne Goriely
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK
    Science 301:643-6. 2003
    ..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...
  7. pmc Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth
    Neus Martínez-Abadías
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16803, USA
    Dev Dyn 239:3058-71. 2010
    ..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...
  8. pmc Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome
    Kathleen F Oram
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genetics 170:971-4. 2005
    ....
  9. ncbi Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling
    Hichem Miraoui
    INSERM U606, Paris, France
    J Biol Chem 284:4897-904. 2009
    ..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...
  10. pmc Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice
    Yingli Wang
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    BMC Dev Biol 10:22. 2010
    ..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...
  11. ncbi A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis
    Lin Chen
    Genetics of Development and Disease Branch, NIDDK NIH, 10 9N105, 10 Center Drive, Bethesda, MD 20892, USA
    Bone 33:169-78. 2003
    ..Thus, our data reveal that dysregulated apoptosis plays an important role in the pathogenesis of AS related phenotypes...
  12. pmc Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
    Nneamaka B Agochukwu
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B 207, Bethesda, MD 20892, USA
    Childs Nerv Syst 28:1447-63. 2012
    ..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...
  13. pmc Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome
    Greg Holmes
    Department of Microbiology, New York University School of Medicine, 550 1st Ave, New York, NY 10016, USA
    Dev Biol 368:283-93. 2012
    ..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...
  14. ncbi A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis
    Liangjun Yin
    State Key Laboratory of Trauma, Burns and Combined Injury, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, 400042, China
    Bone 42:631-43. 2008
    ..And the Erk1/2 signaling pathway partially mediated the effects of P253R mutation of Fgfr2 on cranial sutures and long bones...
  15. ncbi Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    Elisabeth Lajeunie
    1INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 14:289-98. 2006
    ..A limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis...
  16. pmc Brain phenotypes in two FGFR2 mouse models for Apert syndrome
    Kristina Aldridge
    Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, Missouri 65212, USA
    Dev Dyn 239:987-97. 2010
    ..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...
  17. pmc A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes
    M K Hajihosseini
    Imperial Cancer Research Fund, 44 Lincoln s Inn Fields, London WC2A 3PX, United Kingdom
    Proc Natl Acad Sci U S A 98:3855-60. 2001
    ..This phenotype has strong parallels to some Apert's and Pfeiffer's syndrome patients...
  18. pmc Increased osteoblast apoptosis in apert craniosynostosis: role of protein kinase C and interleukin-1
    J Lemonnier
    INSERM U 349 Affiliated CNRS, , Paris, France
    Am J Pathol 158:1833-42. 2001
    ..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...
  19. pmc Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations
    W A Paznekas
    Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287 3914, USA
    Am J Hum Genet 62:1370-80. 1998
    ....
  20. ncbi Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review
    Charles Raybaud
    Neuroradiology, Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Childs Nerv Syst 23:1379-88. 2007
    ..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...
  21. ncbi Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
    V El Ghouzzi
    , INSERM U-393, Institut Necker, , Paris, France
    FEBS Lett 492:112-8. 2001
    ....
  22. pmc Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants
    Amanda M Maia
    Laboratório de Célula tronco CEMO INCA, Praça da Cruz Vermelha 236 Andar, Centro, Rio de Janeiro RJ, Brasil
    BMC Bioinformatics 13:184. 2012
    ..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...
  23. ncbi Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment
    Jeffrey A Fearon
    Craniofacial Center, North Texas Hospital for Children, Medical City Dallas Hospital, Dallas, Texas, USA
    Plast Reconstr Surg 115:1524-36. 2005
    ..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...
  24. pmc FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models
    Neus Martínez-Abadías
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States of America
    PLoS ONE 6:e26425. 2011
    ..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...
  25. ncbi Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment
    A Yacubian-Fernandes
    Department of Craniofacial Surgery, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo, Rua Silvio Marchione 3 20, Vila Universitária cep 17012, 900 Bauru SP, Brasil
    J Neuroradiol 31:116-22. 2004
    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 ..
  26. ncbi Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome
    Ethan A Carver
    Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Anat Rec 268:90-2. 2002
    ....
  27. pmc Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts
    A Mansukhani
    Department of Microbiology, New York University School of Medicine, New York, New York 10016, USA
    J Cell Biol 149:1297-308. 2000
    ..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...
  28. ncbi The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation
    Massimiliano Rossi
    Clinical and Molecular Genetics Unit, Level 5 Camelia Botnar Labs, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Clin Dysmorphol 12:269-74. 2003
    ..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...
  29. pmc RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
    Dagan Jenkins
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 80:1162-70. 2007
    ....
  30. ncbi Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
    P Rutland
    Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK
    Nat Genet 9:173-6. 1995
    ..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...
  31. ncbi Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome
    R D Rynearson
    Department of Orthodontics, School of Dentistry, Loma Linda University, California, USA
    Angle Orthod 70:247-52. 2000
    ..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...
  32. pmc Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R)
    XiaoLan Du
    State Key Laboratory of Trauma, Burns and Combined Injury, Center of Bone Metabolism and Repair, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, China
    J Anat 217:97-105. 2010
    ..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...
  33. ncbi FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report
    Anna Hackett
    Hunter Genetics, John Hunter Hospital, Newcastle, New South Wales, Australia
    Clin Dysmorphol 15:207-10. 2006
    ..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...
  34. ncbi MRI characterization of the glenohumeral joint in Apert syndrome
    Tami McHugh
    Department of Radiology, University of Illinois Chicago, Chicago, IL, USA
    Pediatr Radiol 37:596-9. 2007
    ..The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head...
  35. ncbi Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes
    Roopa Purushothaman
    Department of Oral Biology, University of Washington, Seattle, USA
    Birth Defects Res A Clin Mol Teratol 91:603-9. 2011
    ..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...
  36. ncbi Craniosynostosis and related limb anomalies
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Novartis Found Symp 232:122-33; discussion 133-43. 2001
    ..DNA binding studies show that the craniosynostosis and parietal foramina arise from gain and loss of function, respectively...
  37. pmc Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells
    Roberto D Fanganiello
    Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Mol Med 13:422-42. 2007
    ....
  38. pmc A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations
    Soo Kyung Choi
    Molecular and Computational Biology Program, University of Southern California, 1050 Childs Way, Los Angeles, CA 90089 2910, USA
    Proc Natl Acad Sci U S A 105:10143-8. 2008
    ..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...
  39. pmc Analysis of phenotypic features and FGFR2 mutations in Apert syndrome
    W J Park
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287 3914, USA
    Am J Hum Genet 57:321-8. 1995
    ..These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences...
  40. pmc Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology
    Greg Holmes
    Department of Microbiology, New York University School of Medicine, New York, NY 10016, USA
    Dev Biol 328:273-84. 2009
    ....
  41. pmc Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
    Jane A Hurst
    Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Oxford, UK
    Eur J Hum Genet 19:757-62. 2011
    ....
  42. ncbi Mutations in the human TWIST gene
    K W Gripp
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 15:150-5. 2000
    ..1998]. The gene deletions and numerous nonsense mutations are suggestive of haploinsufficiency as the disease-causing mechanism. No genotype phenotype correlation was apparent...
  43. pmc Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
    R L Glaser
    Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Am J Hum Genet 66:768-77. 2000
    ..Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations...
  44. pmc Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
    Shih hsin Kan
    Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Oxford, United Kingdom
    Am J Hum Genet 70:472-86. 2002
    ..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...
  45. pmc Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome
    O A Ibrahimi
    Department of Pharmacology, New York University School of Medicine, New York, NY 10016, USA
    Proc Natl Acad Sci U S A 98:7182-7. 2001
    ..Furthermore, the distinct gain-of-function interactions observed in each crystal structure provide a model to explain the phenotypic variability among AS patients...
  46. ncbi Understanding the molecular basis of Apert syndrome
    Omar A Ibrahimi
    Department of Pharmacology and the Institute of Reconstructive Plastic Surgery, New York University School of Medicine, New York, NY 10016, USA
    Plast Reconstr Surg 115:264-70. 2005
    ..In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications...
  47. ncbi A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
    Y X Zhou
    Genetics of Development and Disease Branch, NIDDK, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 9:2001-8. 2000
    ....
  48. ncbi A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome
    Hind Guenou
    Laboratory of Osteoblast Biology and Pathology, INSERM U606, Paris, University Paris 7, Hopital Lariboisiere, Paris, France
    Hum Mol Genet 14:1429-39. 2005
    ..This provides genetic and biochemical evidence for a role of Fgfr2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the SCS...
  49. ncbi FGFs, their receptors, and human limb malformations: clinical and molecular correlations
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Med Genet 112:266-78. 2002
    ..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...
  50. ncbi Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model
    Lee M Wheldon
    School of Biosciences, University of Birmingham, Edgbaston B15 2TT, UK
    Biochem J 436:71-81. 2011
    ..Moreover, our findings raise the interesting possibility that FGFR2 signalling may be a regulator of the NMD pathway...
  51. ncbi Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
    Elena G Bochukova
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    Hum Mutat 30:204-11. 2009
    ....
  52. ncbi Apert syndrome: a case report with discussion of craniofacial features
    R P Paravatty
    Department of Oral Diagnosis, Medicine, and Radiology, College of Dental Surgery, Manipal, India
    Quintessence Int 30:423-6. 1999
    ..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...
  53. ncbi The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
    C S Rose
    Unit of Molecular Genetics, Institute of Child Health, London, UK
    Hum Mol Genet 6:1369-73. 1997
    ..Although phenotypically diagnosed as having Saethre-Chotzen syndrome, three families were found to have a pro250arg mutation of FGFR3...
  54. pmc The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm
    Rivka L Glaser
    Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University, Baltimore, MD 21287, USA
    Am J Hum Genet 73:939-47. 2003
    ..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...
  55. ncbi Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome
    Wolfram Kress
    Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Eur J Hum Genet 14:39-48. 2006
    ..Contrary to previous reports, SCS patients with complete loss of one TWIST allele showed normal mental development...
  56. ncbi Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations
    Sandra R D Nascimento
    Faculdade de Ciencias Medicas, Departamento de Genética Médica, Universidade Estadual de Campinas, Campinas, Brazil
    Cleft Palate Craniofac J 41:250-5. 2004
    ..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)...
  57. pmc Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:6051-6. 2005
    ..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...
  58. ncbi Tracheal anomalies in Pfeiffer syndrome
    Neil G Hockstein
    Division of Otolaryngology, Department of Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Arch Otolaryngol Head Neck Surg 130:1298-302. 2004
    ..To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome...
  59. ncbi Cranial vault distraction: its illusionary effect and limitation
    Hiroki Yano
    Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Nagasaki, Japan
    Plast Reconstr Surg 117:193-200; discussion 201. 2006
    ..These patients also had so much bone defect that the donor bone was inadequate for immediate revisions, and dissection under the scalp was complicated...
  60. ncbi Simultaneous multiple vector distraction for craniosynostosis syndromes
    Peter J Anderson
    Australian Craniofacial Unit, Women s and Children s Hospital, 72 King William Street, Adelaide, SA 5006, South Australia
    Br J Plast Surg 58:626-31. 2005
    ....
  61. ncbi Le Fort III advancement osteotomy in the growing child affected by Crouzon's and Apert's syndromes: presurgical and postsurgical growth
    Maria Costanza Meazzini
    Department of Plastic and Maxillofacial Surgery, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy
    J Craniofac Surg 16:369-77. 2005
    ..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...
  62. ncbi P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation
    Tiziano Baroni
    Institute of Histology and General Embryology, University of Perugia, Perugia, Italy
    J Cell Physiol 202:524-35. 2005
    ..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...
  63. ncbi Exclusive paternal origin of new mutations in Apert syndrome
    D M Moloney
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 13:48-53. 1996
    ..This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder...
  64. pmc The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model
    Fan Yang
    Department of Chemical Engineering, Massachusetts Institute of Technology, 45 Carleton Street, E25 342, Cambridge, MA 02142, USA
    Bone 43:55-63. 2008
    ..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...
  65. ncbi Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation
    Malika Yousfi
    Laboratory of Osteoblast Biology and Pathology, INSERM U349 affiliated CNRS, Hopital Lariboisiere, 2 rue Ambroise Pare 75475 Paris cedex 10, France
    Hum Mol Genet 11:359-69. 2002
    ....
  66. ncbi Dear old dad
    Rivka L Glaser
    Institute of Genetic Medicine at Johns Hopkins University, Baltimore, MD 21287, USA
    Sci Aging Knowledge Environ 2004:re1. 2004
    ..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...
  67. ncbi Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome
    Ann K Corsi
    Department of Biology, The Catholic University of America, Washington, DC 20064, USA
    Development 129:2761-72. 2002
    ..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...
  68. ncbi Social adjustment of children with a severe craniofacial anomaly (Apert syndrome)
    K Sarimski
    Kinderzentrum Munchen, Munchen, Germany
    Child Care Health Dev 27:583-90. 2001
    ..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?..
  69. ncbi 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 A Britto
    The Craniofacial Centre, Great Ormond Street Hospital for Children, London, United Kingdom
    J Neurosurg 95:660-73. 2001
    ..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...
  70. ncbi [Mid-face distraction after LeFort III osteotomy in craniofacial dysmorphism]
    D Weingart
    Klinik für Kiefer und Gesichtschirurgie Plastische Operationen, Katharinenhospital, Kriegsbergstrasse 60, 70174 Stuttgart
    Mund Kiefer Gesichtschir 5:221-6. 2001
    ..There appear to be significant advantages in using distraction osteogenesis of the midface after surgery...
  71. pmc Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review
    Roger H Woods
    Oxford Craniofacial Unit and the Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Plast Reconstr Surg 123:1801-10. 2009
    ..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...
  72. pmc Hunterian Lecture. What can we learn about mechanisms of mutation from a study of craniosynostosis?
    D Moloney
    Department of Plastic and Reconstructive Surgery, The Radcliffe Infirmary, Oxford, UK
    Ann R Coll Surg Engl 83:1-9. 2001
    ....
  73. ncbi Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome
    E K Sannomiya
    Department of Oral and Maxillofacial Radiology, São Paulo Metodista School of Dentistry, Av Lacerda Franco 1180, Aclimação, Sao Paulo, Brazil
    Dentomaxillofac Radiol 35:119-24. 2006
    ..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...
  74. ncbi Dentofacial characteristics in Apert syndrome: a case report
    P Batra
    Dept of Dental Surgery, All India Institute of Medical Sciences, New Delhi
    J Indian Soc Pedod Prev Dent 20:118-23. 2002
    ..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...
  75. pmc Expression profiles of craniosynostosis-derived fibroblasts
    Francesco Carinci
    University of Ferrera, Italy
    Mol Med 8:638-44. 2002
    ..The cellular phenotype is characterized by abnormal extracellular matrix turnover...
  76. ncbi Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
    V El Ghouzzi
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Institut Necker, Paris, France
    Eur J Hum Genet 7:27-33. 1999
    ..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...
  77. ncbi Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model
    Mohammad K Hajihosseini
    School of Biological Sciences, University of East Anglia, Norwich, United Kingdom
    Dev Dyn 238:376-85. 2009
    ..These findings strongly suggest that Fgf10 contributes to AS-like pathologies and highlight a complexity of Fgf10 function in different tissues...
  78. ncbi Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
    T D Howard
    Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
    Nat Genet 15:36-41. 1997
    ..The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs...
  79. pmc Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis
    Anna K Coussens
    Cooperative Research Centre for Diagnostics, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane 4001, Australia
    BMC Genomics 8:458. 2007
    ..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...
  80. ncbi A clinicoradiologic study of the shoulder in Apert syndrome
    Lucas M Murnaghan
    Department of Orthopaedics, University of British Columbia, Canada
    J Pediatr Orthop 27:838-43. 2007
    ..To provide a comprehensive radiographic, clinical, and functional description of the shoulder in Apert syndrome...
  81. ncbi Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach
    Anna K Coussens
    Cooperative Research Centre for Diagnostics, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, QLD, Australia
    Differentiation 76:531-45. 2008
    ..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...
  82. ncbi Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis
    N Sakai
    Department of Plastic and Reconstructive Surgery, Kitasato University, School of Medicine, Kanagawa, Japan
    J Craniofac Surg 12:580-5. 2001
    ..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...
  83. ncbi Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature
    Alfredo Nazzaro
    Prenatal Diagnosis Unit, Gaetano Rummo Hospital, Benevento, Italy
    Prenat Diagn 24:918-22. 2004
    ..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...
  84. ncbi Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2
    Ahmad S Teebi
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Ontario, Canada
    Am J Med Genet 107:43-7. 2002
    ..Speculation on the molecular mechanisms that cause severe and mild phenotypes is presented in relation to these two cases...
  85. ncbi Genetic analysis of patients with the Saethre-Chotzen phenotype
    Kathy Chun
    Department of Pediatric Laboratory Medicine, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet 110:136-43. 2002
    ....
  86. ncbi Accuracy of craniofacial measurements: computed tomography and three-dimensional computed tomography compared with stereolithographic models
    Julia Frühwald
    Department of Radiology, Division of Osteoradiology, Medical University of Vienna, Austria
    J Craniofac Surg 19:22-6. 2008
    ..Three-dimensional virtual reality display modes serve significantly better for exact distance measurements on the complex surface of the human skull than planar reformats of the same computed tomography data sets...
  87. ncbi Syndromic craniosynostosis: from history to hydrogen bonds
    Machael L Cunningham
    Division of Craniofacial Medicine, University of Washington Department of Pediatrics and Children s Craniofacial Center, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Orthod Craniofac Res 10:67-81. 2007
    ..In this review we will discuss the historical descriptions, current phenotypes and molecular causes of the more common forms of syndromic craniosynostosis...
  88. ncbi Palpebral fissure changes after monobloc frontofacial advancement in faciocraniosynostosis
    Antonio Augusto V Cruz
    Craniofacial Unit of the Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil
    J Craniofac Surg 19:106-9. 2008
    ..The postoperative changes induced by the frontofacial monobloc advancement need to be taken into account when the surgery is going to be performed...
  89. ncbi [Tracheal cartilaginous sleeve in craniosynostosis]
    Tomoaki Nakano
    Department of Pediatric Otorhinolaryngology, Osaka City General Hospital, Osaka
    Nihon Jibiinkoka Gakkai Kaiho 111:623-7. 2008
    ..3D-CT was not useful in diagnosing TCS. Aggressive management of respiratory infection and pulmonary secretion, selection of appropriate tracheostomy tubes, and endoscopic evaluation are very important to care in managing TCS patients...
  90. ncbi Relapse following frontofacial advancement using the rigid external distractor
    Helen Witherow
    Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom
    J Craniofac Surg 19:113-20. 2008
    ..Overdistraction in the growing infant is recommended to allow for completion of growth. Overdistraction is not needed to compensate for potential relapse...
  91. ncbi [Prenatal diagnosis of craniosynostosis]
    J P Bernard
    Service de Gynécologie Obstétrique Pr Ville, Centre Hospitalier de Poissy, 10, rue du Champs Gaillard, 78300 Poissy
    Neurochirurgie 52:246-58. 2006
  92. ncbi Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors
    Natalja Bannink
    Dutch Craniofacial Center, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Craniofac Surg 19:121-7. 2008
    ..Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure...
  93. ncbi Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
    P J Anderson
    Australian Craniofacial Unit, Women s and Children s Hospital, Adelaide, Australia
    J Craniofac Surg 17:166-72. 2006
    ..We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single mutation...
  94. ncbi Morphology and growth of the mandible in Crouzon, Apert, and Pfeiffer syndromes
    Sean Boutros
    Hermann Hospital and Hermann Children s Hospital Houston, Houston, Texas, USA
    J Craniofac Surg 18:146-50. 2007
    ..Consequently, the ramus appears torqued inward, forming a greater angle with the cranial base...
  95. ncbi Sinus pericranii associated with craniosynostosis
    Nobuyuki Mitsukawa
    Department of Plastic and Reconstructive Surgery, St Mary s Hospital, Kurume, Japan
    J Craniofac Surg 18:78-84. 2007
    ..In this study, we examine the etiology, diagnosis, and treatment of sinus pericranii, in particular for patients with craniosynostosis...
  96. ncbi Oral health status of children with syndromic craniosynostosis
    Gisele da Silva Dalben
    Public Health Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, SP, Brazil
    Oral Health Prev Dent 4:173-9. 2006
    ..To gain more information on the oral health status of subjects with syndromic craniosynostosis...
  97. ncbi Le Fort III midfacial distraction using an internal distraction device for syndromic craniosynostosis: device selection, problems, indications, and a proposal for use of a parallel bar for device-setting
    Kaneshige Satoh
    Department of Plastic and Reconstructive Surgery, Showa University, Shinagawaku, Tokyo, Japan
    J Craniofac Surg 17:1050-8. 2006
    ..Slight asymmetry was noticed in two cases without any need for management. In order to obtain parallel setting of the bilateral distraction devices, a newly developed parallel bar was used and demonstrated to be effective...
  98. ncbi Clinical features of syndromic craniosynostosis
    David P Rice
    Department of Orthodontics and Craniofacial Development, King s College London, London, UK
    Front Oral Biol 12:91-106. 2008
    ....
  99. ncbi A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene
    V Shotelersuk
    Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Southeast Asian J Trop Med Public Health 32:425-8. 2001
    ..Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome...
  100. ncbi A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
    Thomy J L de Ravel
    Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium
    Eur J Hum Genet 13:503-5. 2005
    ..Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations...
  101. ncbi Prenatal diagnosis of Pfeiffer syndrome type II
    Bettina Blaumeiser
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Prenat Diagn 24:644-6. 2004
    ..To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history...

Research Grants4

  1. TRANSCRIPTION FACTORS INVOLVED IN HEART DEVELOPMENT
    Anthony B Firulli; Fiscal Year: 2010
    ..The understanding gained from this proposal will add significant insight into the molecular mechanisms that drive heart formation and go awry in human disease. ..
  2. Outcomes of Furlow&Conventional Palatoplasty Procedures
    Robert Havlik; Fiscal Year: 2002
    ..In addition, there have been no studies on the palatal architecture parameters and their influence upon oronasal fistulae and velopharyngeal competence that have been published. ..
  3. Transcriptional Regulation of Mesoderm Development
    ANN CORSI; Fiscal Year: 2005
    ..New genes in the pathway that are identified in C elegans are predicted to be good candidates for the unknown genetic basis underlying these human disorders. ..
  4. Transcriptional Regulation of Mesoderm Development
    ANN CORSI; Fiscal Year: 2007
    ..We expect because roundworm and human proteins are related, the information we learn will be relevant to humans and human disease. [unreadable] [unreadable] [unreadable]..