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We have experienced a case of Cornelia de Lange syndrome in a 3-year-old boy. The patient showed
most of the typical clinical features of the syndrome: microcephaly, bushy eyebrows and synophys,
antimongolian slant, small nose and anteverted nostrils, thin protruding lips with downturning of the
comer, micrognathia, low set ears, generalized hirsuitism, and growth redardation.
The patient also had skeletal abnormalities of hands. Chromosomal... |
