Genetic analysis of non-syndromic craniosynostosis.

Craniosynostosis is a common malformation occurring in 3-5 per 10,000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non-genetic factors contributing to the risk of this common craniofacial defect.

[1]  A. Wade,et al.  Speech, language, and cognitive development in children with isolated sagittal synostosis. , 2003, Developmental medicine and child neurology.

[2]  J. Mulliken,et al.  Unilateral Fusion of the Frontosphenoidal Suture: A Rare Cause of Synostotic Frontal Plagiocephaly , 2002, Plastic and reconstructive surgery.

[3]  E. Jabs,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. , 1996, American journal of human genetics.

[4]  R. Shprintzen,et al.  Asterion Region Synostosis , 1994 .

[5]  P. Bénit,et al.  Mutations of the TWIST gene in the Saethre-Chotzene syndrome , 1997, Nature Genetics.

[6]  E. Jabs,et al.  Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly , 2005, Clinical genetics.

[7]  K. Källén.  Maternal smoking and craniosynostosis. , 1999, Teratology.

[8]  E. Jabs,et al.  Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene , 2005, Journal of Medical Genetics.

[9]  A. Wilkie,et al.  A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis? , 2000, European Journal of Human Genetics.

[10]  T. Beaty,et al.  Genetic and Environmental Risk Factors for Sagittal Craniosynostosis , 2002, The Journal of craniofacial surgery.

[11]  E. Green,et al.  Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome , 1997, Nature Genetics.

[12]  A. Wilkie.  Craniosynostosis: genes and mechanisms. , 1997, Human molecular genetics.

[13]  W. J. Oakes,et al.  Unilateral Lambdoidal Synostosis with Mendosal Suture Involvement , 2003, Pediatric Neurosurgery.

[14]  A. Hunter,et al.  Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. , 1977, Teratology.

[15]  V. P. Eswarakumar,et al.  Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis , 2006, Proceedings of the National Academy of Sciences.

[16]  C. Bonaïti‐pellié,et al.  Genetic study of nonsyndromic coronal craniosynostosis. , 1995, American journal of medical genetics.

[17]  É. Arnaud,et al.  [Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases]. , 1997, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[18]  E. Traboulsi,et al.  Ophthalmologic Findings in Patients With Nonsyndromic Plagiocephaly , 2002, The Journal of craniofacial surgery.

[19]  Kristina Aldridge,et al.  Precision and error of three‐dimensional phenotypic measures acquired from 3dMD photogrammetric images , 2005, American journal of medical genetics. Part A.

[20]  E. Haan,et al.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. , 1997, American journal of human genetics.

[21]  Graham Jm,et al.  Cranial synostosis and intra-uterine compression: a developmental study of human sutures. , 1982 .

[22]  W. Reardon,et al.  Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes , 1995, Nature Genetics.

[23]  J. Persing,et al.  Non-syndromic Craniosynostosis , 2009 .

[24]  E. Jabs,et al.  Two craniosynostotic patients with 11q deletions, and review of 48 cases. , 1995, American journal of medical genetics.

[25]  R. Hayward,et al.  Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management , 1995, Child's Nervous System.

[26]  J. Goodrich,et al.  Lambdoid stenosis (posterior plagiocephaly) and craniofacial asymmetry: long-term outcomes , 1996, Child's Nervous System.

[27]  H. Shahinian,et al.  Obstetrical Factors Governing the Etiopathogenesis of Lambdoid Synostosis , 1998, American journal of perinatology.

[28]  D. Rénier,et al.  Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. , 1998, American journal of medical genetics.

[29]  A. Hunter,et al.  Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). , 1976, Teratology.

[30]  T. Shimoji,et al.  Mild trigonocephaly and intracranial pressure: report of 56 patients , 2003, Child's Nervous System.

[31]  E. Zackai,et al.  Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes , 1996, Nature Genetics.

[32]  W. J. Oakes,et al.  Preliminary Observations on the Association between Simple Metopic Ridging in Children without Trigonocephaly and the Chiari I Malformation , 2001, Pediatric Neurosurgery.

[33]  M. Muenke,et al.  Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis , 1997, The Lancet.

[34]  Gudmundur A. Thorisson,et al.  The International HapMap Project Web site. , 2005, Genome research.

[35]  S. Pruzansky,et al.  Craniosynostosis : diagnosis, evaluation, and management , 1986 .

[36]  J. Richtsmeier,et al.  Brain morphology in nonsyndromic unicoronal craniosynostosis. , 2005, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology.

[37]  S. Schwartz,et al.  Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. , 1999, American journal of human genetics.

[38]  J. Siebert,et al.  Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base. , 1987, American journal of medical genetics.

[39]  D. Renier,et al.  L’oxycéphalie, une craniosténose sévère. À propos d’une série de 129 cas , 1997 .

[40]  K. Y. Lin,et al.  Recurrent lambdoid synostosis within two families. , 1995, American journal of medical genetics.

[41]  W. Kress,et al.  An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly , 2001, Cytogenetic and Genome Research.

[42]  E. Jabs,et al.  Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. , 1998, American journal of human genetics.

[43]  M. Passos-Bueno,et al.  Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? , 1997, American journal of medical genetics.

[44]  S. Clarren,et al.  The Differential Diagnosis of Posterior Plagiocephaly: True Lambdoid Synostosis versus Positional Molding , 1996, Plastic and reconstructive surgery.

[45]  K. Lyons,et al.  Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. , 2006, Human molecular genetics.

[46]  F. Speleman,et al.  Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. , 1994, American journal of medical genetics.

[47]  C. Bonaïti‐pellié,et al.  Genetic study of scaphocephaly. , 1996, American journal of medical genetics.

[48]  M. Westerveld,et al.  Long-Term Neuropsychological Effects of Sagittal Craniosynostosis on Child Development , 2002, The Journal of craniofacial surgery.

[49]  M. Bourgeois,et al.  Craniosynostosis and fetal exposure to sodium valproate. , 2001, Journal of neurosurgery.

[50]  S. Scherer,et al.  Genetic analysis of patients with the Saethre-Chotzen phenotype. , 2002, American journal of medical genetics.

[51]  E. Jabs.  Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates , 1998, Clinical genetics.

[52]  Daniel Govier,et al.  Central nervous system phenotypes in craniosynostosis , 2002, Journal of anatomy.

[53]  E. Jabs,et al.  A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis , 1993, Cell.

[54]  D. Thompson,et al.  Intracranial pressure in single-suture craniosynostosis. , 1995, Pediatric neurosurgery.

[55]  J. Graham,et al.  A de novo interstitial deletion of chromosome 6 (q22.2q23.1) , 1988, Clinical genetics.

[56]  G. Currarino.  Premature closure of the frontozygomatic suture: unusual frontoorbital dysplasia mimicking unilateral coronal synostosis. , 1985, AJNR. American journal of neuroradiology.

[57]  É. Arnaud,et al.  Classification of previously unclassified cases of craniosynostosis. , 1996, Journal of neurosurgery.