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Sample records for acrocephalosyndactylia

  1. PFEIFFER TYPE I SYNDROME: A GENETICALLY PROVEN CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sh. Salehpour

    2008-10-01

    Full Text Available ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.Keywords: Acrocephalosyndactylia, Craniosynostoses, Broad and great toes, Pfeiffer, Syndrome