« Previous
Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 150-161
, September 2007
Genetics of Craniosynostosis
References
- . Mild trigonocephaly and intracranial pressure: report of 56 patients. Childs Nerv Syst. 2004;20:749–756
- Subdural intracranial pressure monitoring in craniosynostosis: Its role in surgical management. Childs Nerv Syst. 1995;11:269–275
- Intracranial pressure in single-suture craniosynostosis. Pediatr Neurosurg. 1995;22:235–240
- Speech, language, and cognitive development in children with isolated sagittal synostosis. Dev Med Child Neurol. 2003;45:34–43
- Long-term neuropsychological effects of sagittal craniosynostosis on child development. J Craniofac Surg. 2002;13:99–104
- Ophthalmologic findings in patients with nonsyndromic plagiocephaly. J Craniofac Surg. 2003;14:529–532
- . Craniosynostosis (I. Sagittal synostosis: Its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture). Teratology. 1976;14:185–193
- Genetic study of scaphocephaly. Am J Med Genet. 1996;62:282–285
- . Maternal smoking and craniosynostosis. Teratology. 1999;60:146–150
- Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet. 1995;55:500–504
- Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet. 2006;15:1319–1328
- The differential diagnosis of posterior plagiocephaly: True lambdoid synostosis versus positional molding. Plast Reconstr Surg. 1996;98:765–774discussion 775-776
- . Lambdoid stenosis (posterior plagiocephaly) and craniofacial asymmetry: Long-term outcomes. Childs Nerv Syst. 1996;12:720–726
- Asterion region synostosis. Cleft Palate Craniofac J. 1994;31:136–141
- . Unilateral lambdoidal synostosis with mendosal suture involvement. Pediatr Neurosurg. 2003;39:55
- Obstetrical factors governing the etiopathogenesis of lambdoid synostosis. Am J Perinatol. 1998;15:281–286
- Classification of previously unclassified cases of craniosynostosis. J Neurosurg. 1997;86:177–181
- Oxycephaly, a severe craniosynostosis (Apropos of a series of 129 cases). Arch Pediatr. 1997;4:722–729
- . Craniosynostosis: Diagnosis, Evaluation, and Management. New York, NY: Oxford University Press; 2000;
- . Craniosynostosis: Genes and mechanisms. Hum Mol Genet. 1997;6:1647–1656
- FGFs, their receptors, and human limb malformations: Clinical and molecular correlations. Am J Med Genet. 2002;112:266–278
- . Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. 1998;53:79–86
- Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995;9:173–176
- 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;58:491–498
- Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet. 1997;15:42–46
- Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet. 1997;15:36–41
- A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 1993;75:443–450
- Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 2000;24:387–390
- Online Mendelian Inheritance In Man (OMIM) www.ncbi.nlm.nih.gov/sites/entrez?db Accessed May 2007.
- A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet. 1998;63:1282–1293
- . A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. Am J Hum Genet. 1998;63:1277–1281
- . Mutations in the human TWIST gene. Hum Mutat. 2000;15:150–155
- Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002;110:136–143
- Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg. 2005;115:1894–1902discussion 1903-1905
- . Metacarpophalangeal analysis in Crouzon syndrome: Additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes. Am J Med Genet. 1997;73:61–66
- Chiari “malformation” in Crouzon syndrome. Arch Pediatr. 1996;3:433–439
- Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992;44:82–89
- Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996;13:492–494
- Apert syndrome: Factors involved in the cognitive development. Ar Neuropsiquiatr. 2005;63:963–968
- Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A. 2006;140:1337–1338
- Prognosis for mental function in Apert’s syndrome. J Neurosurg. 1996;85:66–72
- . Visceral anomalies in the Apert syndrome. Am J Med Genet. 1993;45:758–760
- Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol. 1999;14:426–430
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9:165–172
- Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet. 1996;58:923–932
- . Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in coculture during the perinatal period. Endocrinology. 1996;137:647–654
- Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001;98:75–91
- Craniofrontonasal syndrome: Study of 41 patients. Am J Med Genet. 1996;61:147–151
- . Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. Clin Genet. 1980;17:161–166
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006;43:148–152
- Another TWIST on Baller-Gerold syndrome. Am J Med Genet. 2001;104:323–330
- Antley-Bixler syndrome (Description of two new cases and a review of the literature). Childs Nerv Syst. 1997;13:275–280discussion 281
- Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet. 1993;46:444–449
- Wilkie AOM, Marvrogiannis LA (Updated 2006): Enlarged Parietal Foramina/Cranium Bifidum. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2005. Available at http://www.genetests.org. Accessed October 2, 2007.
- . Craniosynostosis (Diagnosis, Evaluation, and Management). New York, NY: Raven Press; 1986;
- RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 2007;80:1162–1170
- Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients. Am J Med Genet. 1998;75:211–215
- . Prenatal exposure to fluconazole: An identifiable dysmorphic phenotype. Birth Defects Res A Clin Mol Teratol. 2005;73:919–923
- Management of craniosynostoses. Childs Nerv Syst. 2000;16:645–658
- Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature. Am J Med Genet. 2007;(in press)
- . Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes. Plast Reconstr Surg. 2000;105:2314–2323
PII: S1071-9091(07)00061-7
doi: 10.1016/j.spen.2007.08.008
© 2007 Elsevier Inc. All rights reserved.
« Previous
Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 150-161
, September 2007
