Pediatric Neurology
Volume 36, Issue 4 , Pages 250-252 , April 2007

Peripheral Neuropathy in Cardiofaciocutaneous Syndrome

  • Steven T. DeRoos, MD

      Affiliations

    • Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
    • Division of Child Neurology, DeVos Children’s Hospital, Grand Rapids, Michigan
    • Corresponding Author InformationCommunications should be addressed to: Dr. DeRoos; Division of Child Neurology; DeVos Children’s Hospital; 1300 Michigan, Suite 102; Grand Rapids, MI 49503.
    • ,
  • Monique M. Ryan, MB, BS

      Affiliations

    • Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
    • Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
    • ,
  • Robert A. Ouvrier, MD

      Affiliations

    • Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
    • Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.

Received 16 August 2006 ,Accepted 4 December 2006.

References 

  1. Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement: the CFC syndrome. Am J Med Genet. 1986;25:413–427
  2. Kavamura MI, Peres CA, Alchorne MM, Brunoni D. CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet. 2002;112:12–16
  3. Kavamura MI, Zollino M, Lecce R, et al. Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients. Am J Med Genet. 2003;119A:177–179
  4. Kavamura MI, Pomponi MG, Zollino M, et al. PTPN11 mutations are not responsible for the cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet. 2003;11:64–68
  5. Ades LC, Sillence DO, Rogers M. Cardiofaciocutaneous syndrome. Clin Dysmorphol. 1992;1:145–150
  6. Kimura J. Electrodiagnosis in the pediatric population. In: Electrodiagnosis in diseases of nerve and muscle: Principles and practice. 3rd ed.. New York: Oxford University Press; 2001;p. 586–598
  7. Oh SJ. In: Clinical electromyography: Nerve conduction studies (Pediatric nerve conduction studies). 3rd ed.. Baltimore: Williams & Wilkins; 2003;p. 107–135Chapter 8.
  8. Ion A, Tartaglia M, Song X, et al. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet. 2002;111:421–427
  9. Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ. Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve. 1996;19:16–22

PII: S0887-8994(06)00722-3

doi: 10.1016/j.pediatrneurol.2006.12.004

Pediatric Neurology
Volume 36, Issue 4 , Pages 250-252 , April 2007

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