Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.

@article{Tournev1999CongenitalCF,
  title={Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.},
  author={Ivailo Tournev and Luba V Kalaydjieva and B D Youl and Boryana Ishpekova and Velina Guergueltcheva and Ognian Kamenov and Mila Katzarova and Zdravko Kamenov and M Raicheva-Terzieva and Rosalind H. M. King and Krzysztof Waldemar Romański and Radoslav Petkov and A Schmarov and Galya Dimitrova and Nadia Popova and Maria Uzunova and S t Milanov and Julia J Petrova and Y Petkov and Georgi B Kolarov and L Aneva and O Radeva and Professor P. K. Thomas},
  journal={Annals of neurology},
  year={1999},
  volume={45 6},
  pages={
          742-50
        }
}
During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each… CONTINUE READING
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