Pediatric Neurology
Volume 33, Issue 4 , Pages 277-279 , October 2005

Congenital Cataract Facial Dysmorphism Neuropathy Syndrome: A Clinically Recognizable Entity

  • George Shabo, MD

      Affiliations

    • Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Hans Scheffer, PhD

      Affiliations

    • Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Johannes R.M. Cruysberg, MD, PhD

      Affiliations

    • Institute of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Martin Lammens, MD, PhD

      Affiliations

    • Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • Department of Pathology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Jaco W. Pasman, MD, PhD

      Affiliations

    • Department of Clinical Neurophysiology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Maarten Spruit, MD, PhD

      Affiliations

    • Department of Orthopaedics, Sint Maartenskliniek, Nijmegen, The Netherlands
    • ,
  • Michèl A.A.P. Willemsen, MD, PhD

      Affiliations

    • Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • Corresponding Author InformationCommunications should be addressed to: Dr. Willemsen; Department of Pediatric Neurology; University Medical Center Nijmegen; PO Box 9101; NL-6500 HB Nijmegen; The Netherlands.

Received 2 February 2005 ,Accepted 18 April 2005.

References 

  1. Tournev I , Kalaydjieva L , Youl B , et al.   Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies (Clinical and electrophysiological observations) . Ann Neurol . 1999;45:742–750
  2. Kalaydjieva L , Morar B , Grasham D , et al.   Social and biological history of the Roma (Gipsies) . Acta Myologica . 2001;20:181–187
  3. Varon R , Gooding R , Steglich C , et al.   Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome . Nat Genet . 2003;35:185–189
  4. Tournev I , Thomas PK , Gooding R , et al.   Congenital cataracts facial dysmorphism neuropathy syndrome (Clinical, neuropathological and genetic investigation) . Acta Myologica . 2001;20:210–219
  5. Tournev I , King RHM , Workman J , et al.   Peripheral nerve abnormalities in the congenital cataracts dysmorphism neuropathy syndrome . Acta Neuropathol (Berl) . 1999;98:165–170
  6. Merlini L , Gooding R , Lochmuller H , et al.   Genetic identity of Marinesco-Sjögren/myoglobinuria and congenital cataracts facial dysmorphism neuropathy syndromes . Neurology . 2002;58:231–236
  7. Lagier-Tourenne C , Tranebjaerg L , Chaigne D , et al.   Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 . Eur J Hum Genet . 2003;11:770–778

PII: S0887-8994(05)00236-5

doi: 10.1016/j.pediatrneurol.2005.04.011

Pediatric Neurology
Volume 33, Issue 4 , Pages 277-279 , October 2005

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