Corpus ID: 45797129

Nager acrofacial dysostosis. An adult male with severe neurological deficit.

@article{Fryns1996NagerAD,
  title={Nager acrofacial dysostosis. An adult male with severe neurological deficit.},
  author={J. Fryns and A. Bonhomme and H. van den Berghe},
  journal={Genetic counseling},
  year={1996},
  volume={7 2},
  pages={
          147-51
        }
}
In this report we describe a 50-year old male with Nager Acrofacial Dysostosis. In addition to the typical maxillofacial dysostosis and the bilateral thumb hypoplasia, he presented a severe neurological syndrome with spastic diplegia, hemiparesis of the left arm, and agenesis of the corpus callosum on CT-scan. He died at the age of 50 years from congestive heart failure due to a complete AV-block. 
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  • Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
  • 1999
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Analysis of facial structures suggests that if surgical intervention is needed to enable better breathing, the goal of the structural correction should be aimed at the most deficient structure, namely the ramus height. Expand
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It is proposed that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. Expand