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Rev Neurol ; 33(5): 439-43, 2001.
Article in Spanish | MEDLINE | ID: mdl-11727212

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.


Subject(s)
Growth Disorders/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Seizures/genetics , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 4/genetics , Female , Growth Disorders/complications , Humans , Intellectual Disability/complications , Male , Microcephaly/complications , Pedigree , Seizures/complications , Syndrome
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