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Research Article
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
  1. J Christodoulou,
  2. P N McDougall,
  3. L J Sheffield
  1. Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.

    Abstract

    We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

    https://doi.org/10.1136/jmg.26.9.586

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