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  • Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

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Research Article
Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.
  1. J A Hurst,
  2. A C Berry,
  3. M A Tettenborn
  1. Department of Paediatric Genetics, Institute of Child Health, London.

    Abstract

    We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.

    https://doi.org/10.1136/jmg.26.6.407

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