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Research Article
A new recessive syndrome of unusual facies and multiple structural abnormalities.
  1. Y Thakker,
  2. D Donnai
  1. Department of Medical Genetics, St Mary's Hospital, Manchester.

    Abstract

    Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.

    https://doi.org/10.1136/jmg.28.9.633

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