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  • Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

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Research Article
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
  1. J C de Almeida,
  2. D F Reis,
  3. J Llerena Júnior,
  4. J Barbosa Neto,
  5. R L Pontes,
  6. S Middleton,
  7. L F Telles
  1. Centro de Genética Médica, Instituto Fernandes Figueira, Rio de Janeiro, Brazil.

    Abstract

    Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.

    https://doi.org/10.1136/jmg.28.4.277

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