title: [Familial Pitt-Rogers-Danks: two new cases].
abstract: 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.
authors.affiliation: Unidad de Neuropeditría, Hospital Materno-Infantil de Canarias, Las Palmas de Gran Canaria, España. bandera1@retemail.es
authors.forename: J C
authors.initials: JC
authors.lastname: Cabrera López
authors.forename: M
authors.initials: M
authors.lastname: Marti Herrero
authors.forename: M
authors.initials: M
authors.lastname: Fernández Burriel
authors.forename: L
authors.initials: L
authors.lastname: Toledo
authors.forename: R
authors.initials: R
authors.lastname: de Andrés-Cofiño
authors.forename: M A
authors.initials: MA
authors.lastname: Orera
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000150:complications / Q000235:genetics*; D013577:Syndrome