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[Familial Pitt-Rogers-Danks: two new cases].

Authors :
Cabrera López JC
Marti Herrero M
Fernández Burriel M
Toledo L
de Andrés-Cofiño R
Orera MA
Source :
Revista de neurologia [Rev Neurol] 2001 Sep 1-15; Vol. 33 (5), pp. 439-43.
Publication Year :
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.

Details

Language :
Spanish; Castilian
ISSN :
0210-0010
Volume :
33
Issue :
5
Database :
MEDLINE
Journal :
Revista de neurologia
Publication Type :
Academic Journal
Accession number :
11727212