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[Familial Pitt-Rogers-Danks: two new cases].
- 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.
- Subjects :
- Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4 genetics
Female
Growth Disorders complications
Humans
Intellectual Disability complications
Male
Microcephaly complications
Pedigree
Seizures complications
Syndrome
Growth Disorders genetics
Intellectual Disability genetics
Microcephaly genetics
Seizures genetics
Subjects
Details
- Language :
- Spanish; Castilian
- ISSN :
- 0210-0010
- Volume :
- 33
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Revista de neurologia
- Publication Type :
- Academic Journal
- Accession number :
- 11727212