Corpus ID: 26852083

A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.

@article{Ensink1997ANT,
  title={A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.},
  author={R. Ensink and H. Brunner and C. Cremers},
  journal={Genetic counseling},
  year={1997},
  volume={8 4},
  pages={
          285-90
        }
}
Two brothers with congenital conductive hearing loss and phenotypic characteristics of maxillofacial dysostosis are described. In the oldest boy a malformed ossicular chain was present and the conductive hearing loss was improved by a malleo-vestibulo-pexy, with post-operative hearing gain of approximately 30 dB. Although superficially similar to Treacher Collins syndrome, the facial characteristics are more typical of maxillofacial than of mandibulofacial dysostosis. These cases most likely… Expand
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Four individuals in a single family affected with maxillofacial dysostosis are reported, which is transmitted as an autosomal dominant. Expand
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The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibULofacial Dysostosis. Expand
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