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Research Article
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.
  1. J P Fryns,
  2. P Moerman
  1. Centre for Human Genetics, University of Leuven, Belgium.

    Abstract

    In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs. 1 and 2).

    https://doi.org/10.1136/jmg.25.7.498

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