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  • Title: [Familial Pitt-Rogers-Danks: two new cases].
    Author: Cabrera López JC, Marti Herrero M, Fernández Burriel M, Toledo L, de Andrés-Cofiño R, Orera MA.
    Journal: Rev Neurol; ; 33(5):439-43. PubMed ID: 11727212.
    Abstract:
    The Pitt Rogers Danks syndrome is characterized by prenatal and postnatal retardation of growth, mental retardation, microcephaly, convulsions and a peculiar facies. It is believed to represent a clinical variant of the Wolf Hirschhorn syndrome, since there is a deletion in the 4p16.3 region in both syndromes. We report two cases in the same family caused by maternal mal segregation of a 4:8 balanced translocation. We describe the clinical characteristics, investigations done and a review of the literature.
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