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Research Article
Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
  1. D P Cavalcanti
  1. Departamento de Genética Médica, FCM, UNICAMP, SP, Brazil.

    Abstract

    Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.

    https://doi.org/10.1136/jmg.26.12.785

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