« Previous
Next »
Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 128-135
, September 2007
Macrocephaly Syndromes
References
- . Megalencephaly. In: Stephenson RE, Hall JG editor. Human Malformations and Related Anomalies. (ed 2). New York, NY: Oxford University Press; 2006;p. 511–525
- Sotos Syndrome. In: Cohen MM, Neri G, Weksberg R editor. Overgrowth Syndromes. New York, NY: Oxford University Press; 2002;p. 51–58
- . 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
- . Sotos syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 163–164
- . 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
- . Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet. 1994;31:20–32
- The neuroimaging findings in Sotos syndrome. Am J Med Genet. 1997;68:462–465
- Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet. 1999;83:378–381
- . 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
- . Simpson-Golabi-Behmel syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 178–179
- . Fragile X syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 160–161
- . Fragile X syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 152–160
- . Fragile X syndrome. In: Cassidy SB, Allanson JE editor. Management of Genetic Syndromes. (ed 2). Hoboken, NJ: Wiley; 2005;p. 251–263
- . 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
- . Weaver syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 59–65
- Weaver syndrome. In: Jones KL editors. Smith’s Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier; 2006;p. 168
- Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review. Am J Med Genet A. 2004;130:45–51
- . Macrocephaly-cutis marmorata syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 169–171
- . 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
- . Bannayan-Riley-Ruvalcaba syndrome: Overgrowth Syndromes. In: New York, NY: Oxford University Press; 2002;p. 66–74
- . Bannayan-Riley-Ruvalcaba syndrome: Smith’s Recognizable Patterns of human malformation. In: Philadelphia, PA: Elsevier; 2006;p. 610–611
- . 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
- . FG syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 316
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39:451–453
- The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007;44:472–477
- GeneTests: Medical Genetics Information Resource (database online). Seattle, WA, University of Washington, 1997-2007. Available at: http://www.genetets.org. Accessed May 22, 2007
- . Greig cephalopolysyndactyly syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 486
- . 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
- 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
- . 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
- . Acrocallosal syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 252
- . Gorlin syndrome: Smith’s Recognizable Patterns of Human Malformation. In: Philadelphia, PA: Elsevier; 2006;p. 616–617
- 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
- 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
- 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
© 2007 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Pediatric Neurology
Volume 14, Issue 3
, Pages 128-135
, September 2007
