Genetics of Craniosynostosis

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Johnson, 1998, A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1, Am J Hum Genet, 63, 1282, 10.1086/302122 Zackai, 1998, A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome, Am J Hum Genet, 63, 1277, 10.1086/302125 Gripp, 2000, Mutations in the human TWIST gene, Hum Mutat, 15, 150, 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D Chun, 2002, Genetic analysis of patients with the Saethre-Chotzen phenotype, Am J Med Genet, 110, 136, 10.1002/ajmg.10400 de Heer, 2005, Clinical and genetic analysis of patients with Saethre-Chotzen syndrome, Plast Reconstr Surg, 115, 1894, 10.1097/01.PRS.0000165278.72168.51 Murdoch-Kinch, 1997, Metacarpophalangeal analysis in Crouzon syndrome: Additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes, Am J Med Genet, 73, 61, 10.1002/(SICI)1096-8628(19971128)73:1<61::AID-AJMG12>3.0.CO;2-P Cinalli, 1996, Chiari “malformation” in Crouzon syndrome, Arch Pediatr, 3, 433, 10.1016/0929-693X(96)86400-1 Hall, 1992, Beare-Stevenson cutis gyrata syndrome, Am J Med Genet, 44, 82, 10.1002/ajmg.1320440120 Przylepa, 1996, Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome, Nat Genet, 13, 492, 10.1038/ng0896-492 Yacubian-Fernandes, 2005, Apert syndrome: Factors involved in the cognitive development, Ar Neuropsiquiatr, 63, 963, 10.1590/S0004-282X2005000600011 Quintero-Rivera, 2006, Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome, Am J Med Genet A, 140, 1337, 10.1002/ajmg.a.31277 Renier, 1996, Prognosis for mental function in Apert’s syndrome, J Neurosurg, 85, 66, 10.3171/jns.1996.85.1.0066 Cohen, 1993, Visceral anomalies in the Apert syndrome, Am J Med Genet, 45, 758, 10.1002/ajmg.1320450618 Ferreira, 1999, Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings, Ultrasound Obstet Gynecol, 14, 426, 10.1046/j.1469-0705.1999.14060426.x Wilkie, 1995, Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome, Nat Genet, 9, 165, 10.1038/ng0295-165 Slaney, 1996, Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome, Am J Hum Genet, 58, 923 Van Dissel-Emiliani, 1996, Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in coculture during the perinatal period, Endocrinology, 137, 647, 10.1210/en.137.2.647 Schweitzer, 2001, Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, Am J Med Genet, 98, 75, 10.1002/1096-8628(20010101)98:1<75::AID-AJMG1010>3.0.CO;2-6 Saavedra, 1996, Craniofrontonasal syndrome: Study of 41 patients, Am J Med Genet, 61, 147, 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U Anyane-Yeboa, 1980, Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome, Clin Genet, 17, 161, 10.1111/j.1399-0004.1980.tb00126.x Van Maldergem, 2006, Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene, J Med Genet, 43, 148, 10.1136/jmg.2005.031781 Seto, 2001, Another TWIST on Baller-Gerold syndrome, Am J Med Genet, 104, 323, 10.1002/ajmg.10065 Bottero, 1997, Antley-Bixler syndrome, Childs Nerv Syst, 13, 275, 10.1007/s003810050082 Warman, 1993, Newly recognized autosomal dominant disorder with craniosynostosis, Am J Med Genet, 46, 444, 10.1002/ajmg.1320460420 Wilkie AOM, Marvrogiannis LA (Updated 2006): Enlarged Parietal Foramina/Cranium Bifidum. 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