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[Familial Pitt-Rogers-Danks: two new cases]
J C Cabrera López1, M Marti Herrero, M Fernández Burriel
1Unidad de Neuropeditría, Hospital Materno-Infantil de Canarias, Las Palmas de Gran Canaria, España. bandera1@retemail.es
Revista De Neurologia
|December 1, 2001
Abstract
Introduction And Clinical Cases:
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.