Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Genetics in Medicine

Volumn 16, Issue 4, 2014, Pages 302-310

  Greenwood, Jaclyn ^a   Flodman, Pamela ^a   Osann, Kathryn ^a   Boyadjiev, Simeon A ^b   Kimonis, Virginia ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

familial incidence; nonsyndromic craniosynostosis; symptoms

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHRONIC COUGH; CRANIOFACIAL SYNOSTOSIS; EAR INFECTION; FAMILIAL INCIDENCE; FEMALE; FIRST DEGREE RELATIVE; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; PALATE MALFORMATION; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SYMPTOM ASSESSMENT; VISUAL DISORDER; CLASSIFICATION; CRANIAL SUTURE; CRANIOSYNOSTOSES; HEALTH SURVEY; INCIDENCE; INFANT; PATHOLOGY; PEDIGREE; RISK FACTOR; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CRANIAL SUTURES; CRANIOSYNOSTOSES; FEMALE; HEALTH SURVEYS; HUMANS; INCIDENCE; INFANT; MALE; PEDIGREE; PHENOTYPE; RISK FACTORS; YOUNG ADULT;

EID: 84898415142     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.134     Document Type: Article

References (40)

1. Cohen M, MacLean RE. Craniosynostosis: Diagnosis, Evaluation, and Management. 2nd ed. Oxford University Press: New York, NY, 2000:480.
2. Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet A 2008;146A:984-991.
3. Wilkie AO, Bochukova EG, Hansen RM, et al. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 2007;143A:1941-1949.
4. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol 2007;14:150-161.
5. Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC, Longaker MT. Cranial sutures: a brief review. Plast Reconstr Surg 2008;121:170e-178e.
6. Hunter AG, Rudd NL. Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology 1976;14:185-193.
7. Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of scaphocephaly. Am J Med Genet 1996;62:282-285.
8. Hunter AG, Rudd NL. Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology 1977;15:301-309.
9. Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 1995;55:500-504.
10. Lajeunie E, Le Merrer M, Marchac D, Renier D. Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 1998;75:211-215.
11. Jehee FS, Johnson D, Alonso LG, et al. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 2005;67:503-510.
12. Wilkie AO, Byren JC, Hurst JA, et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 2010;126:e391-e400.
13. Huang MH, Gruss JS, Clarren SK, et al. The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. Plast Reconstr Surg 1996;98:765-74; discussion 775.
14. Rekate HL. Occipital plagiocephaly: a critical review of the literature. J Neurosurg 1998;89:24-30.
15. Fryburg JS, Hwang V, Lin KY. Recurrent lambdoid synostosis within two families. Am J Med Genet 1995;58:262-266.
16. Renier D, Cinalli G, Lajeunie E, Arnaud E, Marchac D. [Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases]. Arch Pediatr 1997;4:722-729.
17. Chumas PD, Cinalli G, Arnaud E, Marchac D, Renier D. Classification of previously unclassified cases of craniosynostosis. J Neurosurg 1997;86: 177-181.
18. Lajeunie E, Crimmins DW, Arnaud E, Renier D. Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families. J Neurosurg 2005;103(suppl 4):353-356.
19. Boyadjiev SA; International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res 2007;10:129-137.
20. Sanchez-Lara PA, Carmichael SL, Graham JM Jr, et al.; National Birth Defects Prevention Study. Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet A 2010;152A:394-400.
21. Zeiger JS, Beaty TH, Hetmanski JB, et al. Genetic and environmental risk factors for sagittal craniosynostosis. J Craniofac Surg 2002;13:602-606.
22. Gardner JS, Guyard-Boileau B, Alderman BW, Fernbach SK, Greene C, Mangione EJ. Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis. Int J Epidemiol 1998;27:64-67.
23. Källén K. Maternal smoking and craniosynostosis. Teratology 1999;60:146-150.
24. Justice CM, Yagnik G, Kim Y, et al. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 2012;44:1360-1364.
25. Carter CO, Till K, Fraser V, Coffey R. A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet 1982;19:280-285.
26. Kapp-Simon KA. Mental development and learning disorders in children with single suture craniosynostosis. Cleft Palate Craniofac J 1998;35:197-203.
27. Kapp-Simon KA, Speltz ML, Cunningham ML, Patel PK, Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007;23:269-281.
28. Ricci D, Vasco G, Baranello G, et al. Visual function in infants with nonsyndromic craniosynostosis. Dev Med Child Neurol 2007;49:574-576.
29. Vasco G, Baranello G, Ricci D, et al. Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study. Arch Dis Child 2008;93:932-935.
30. Panchal J, Amirsheybani H, Gurwitch R, et al. Neurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis. Plastic Reconstructive Surg. 2001;108(6):1492-1498; discussion 1499-1500.
31. Becker DB, Petersen JD, Kane AA, Cradock MM, Pilgram TK, Marsh JL. Speech, cognitive, and behavioral outcomes in nonsyndromic craniosynostosis. Plast Reconstr Surg 2005;116:400-407.
32. Shahinian HK, Jaekle R, Suh RH, Jarrahy R, Aguilar VC, Soojian M. Obstetrical factors governing the etiopathogenesis of lambdoid synostosis. Am J Perinatol 1998;15:281-286.
33. Kolar JC. An epidemiological study of nonsyndromal craniosynostoses. J Craniofac Surg 2011;22:47-49.
34. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg 2004;113:1899-1909.
35. Panigrahi I. Craniosynostosis genetics: The mystery unfolds. Indian J Hum Genet 2011;17:48-53.
36. Nieminen P, Morgan NV, Fenwick AL, et al. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet 2011;89:67-81.
37. Hidestrand P, Vasconez H, Cottrill C. Carpenter syndrome. J Craniofac Surg 2009;20:254-256.
38. Czerwinski M, Kolar JC, Fearon JA. Complex craniosynostosis. Plast Reconstr Surg 2011;128:955-961.
39. Macintosh C, Wall S, Leach C. Strabismus in unicoronal synostosis: ipsilateral or contralateral? J Craniofac Surg 2007;18:465-469.
40. Altarac M, Saroha E. Lifetime prevalence of learning disability among US children. Pediatrics 2007;119(suppl 1):S77-S83.