Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 128-135 , September 2007

Macrocephaly Syndromes

  • Ann Haskins Olney, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Ann Haskins Olney, MD, Munroe-Meyer Institute for Genetics and Rehabilitation, 985440 Nebraska Medical Center, Omaha, NE 68198-5440.

References 

  1. Hunter AGW. Megalencephaly. In:  Stephenson RE,  Hall JG editor. Human Malformations and Related Anomalies. (ed 2). New York, NY: Oxford University Press; 2006;p. 511–525
  2. Sotos Syndrome. In:  Cohen MM,  Neri G,  Weksberg R editor. Overgrowth Syndromes. New York, NY: Oxford University Press; 2002;p. 51–58
  3. Tatton-Brown K, Cole TRP, Rahman N. Sotos syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA: University of Washington; 1997-2007;Available at: http://www.genetets.org. Accessed May 19, 2007
  4. Jones KL. Sotos syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 163–164
  5. Gorlin RJ, Cohen MM, Hennekam RCM. Overgrowth syndromes and postnatal onset obesity syndromes: Syndromes of the Head and Neck. In: (ed 4). New York, NY: Oxford University Press; 2001;p. 399–427
  6. Cole TRP, Hughes HE. Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet. 1994;31:20–32
  7. Schaefer GB, Bodensteiner JB, Buehler BA, et al. The neuroimaging findings in Sotos syndrome. Am J Med Genet. 1997;68:462–465
  8. Lin AE, Neri G, Hughes-Benzie R, et al. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet. 1999;83:378–381
  9. James A, Culver K, Golabi M. Simpson-Golabi-Behmel syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA: University of Washington; 1997-2007;Available at: http://www.genetets.org. Accessed May 20, 2007
  10. Jones KL. Simpson-Golabi-Behmel syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 178–179
  11. Jones KL. Fragile X syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 160–161
  12. Cohen MM, Neri G, Weksberg R. Fragile X syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 152–160
  13. Hagerman R. Fragile X syndrome. In:  Cassidy SB,  Allanson JE editor. Management of Genetic Syndromes. (ed 2). Hoboken, NJ: Wiley; 2005;p. 251–263
  14. Saul RA, Tarleton JC. FMR1-Related disorders. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA: University of Washington; 1997-2007;Available at: http://www.genetets.org. Accessed May 20, 2007
  15. Cohen MM, Neri G, Weksberg R. Weaver syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 59–65
  16. Weaver syndrome. In:  Jones KL editors. Smith’s Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier; 2006;p. 168
  17. Lapunzina P, Gairi A, Delicado A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review. Am J Med Genet A. 2004;130:45–51
  18. Cohen MM, Neri G, Weksberg R. Macrocephaly-cutis marmorata syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 169–171
  19. Zbuk KM, Stein JL, Eng C. PTEN hamartoma tumor syndrome (PHTS). In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA: University of Washington; 1997-2007;Available at: http://www.genetets.org. Accessed May 21, 2007
  20. Cohen MM, Neri G, Weksberg R. Bannayan-Riley-Ruvalcaba syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 66–74
  21. Jones KL. Bannayan-Riley-Ruvalcaba syndrome: Smith’s Recognizable Patterns of human malformation. In: Philadelphia, PA: Elsevier; 2006;p. 610–611
  22. Gorlin RJ, Cohen MM, Hennekam RCM. Well-known miscellaneous syndromes: FG syndrome: Syndromes of the Head and Neck. In: (ed 4). New York, NY: Oxford University Press; 2001;p. 1137–1139
  23. Jones KL. FG syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 316
  24. Risheg H, Graham JM, Clark RD, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39:451–453
  25. Schwartz C, Tarpey PS, Lubs HA, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007;44:472–477
  26. GeneTests: Medical Genetics Information Resource (database online). Seattle, WA, University of Washington, 1997-2007. Available at: http://www.genetets.org. Accessed May 22, 2007
  27. Jones KL. Greig cephalopolysyndactyly syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 486
  28. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes with unusual facies: Well-known syndromes: Greig cephalopolysyndactyly syndrome: Syndromes of the Head and Neck. In: (ed 4). New York, NY: Oxford University Press; 2001;p. 995–996
  29. Biesecker L: Greig cephalopolysyndactyly syndrome, in GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA, University of Washington, 1997-2007. Available at: http://www.genetets.org. Accessed May 22, 2007
  30. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes with unusual facies: well-known syndromes: acrocallosal syndrome: Syndromes of the Head and Neck. In: (ed 4). New York, NY: Oxford University Press; 2001;p. 996–998
  31. Jones KL. Acrocallosal syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 252
  32. Jones KL. Gorlin syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 616–617
  33. Evans DG, Farndon PA: Nevoid basal cell carcinoma syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle, WA, University of Washington, 1997-2007. Available at: http://www.genetets.org. Accessed May 24, 2007
  34. Hamartoneoplastic syndromes: Gorlin (nevoid basal cell carcinoma) syndrome. In:  Gorlin RJ,  Cohen MM,  Hennekam RCM editor. Syndromes of the Head and Neck. (ed 4). New York, NY: Oxford University Press; 2001;p. 444–453
  35. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 109400: Last edited 3/1/2007. Available at: http://www.ncbi.nlm.nih.gov/omim/. Accessed 28, 2007

PII: S1071-9091(07)00050-2

doi: 10.1016/j.spen.2007.07.004

Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 128-135 , September 2007