| Literature DB >> 11727212 |
J C Cabrera López1, M Marti Herrero, M Fernández Burriel, L Toledo, R de Andrés-Cofiño, M A Orera.
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.Entities:
Mesh:
Year: 2001 PMID: 11727212
Source DB: PubMed Journal: Rev Neurol ISSN: 0210-0010 Impact factor: 0.870