[Familial Pitt-Rogers-Danks: two new 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.
Cabrera López
J C
JC
Unidad de Neuropeditría, Hospital Materno-Infantil de Canarias, Las Palmas de Gran Canaria, España. bandera1@retemail.es
Marti Herrero
M
M
Fernández Burriel
M
M
Toledo
L
L
de Andrés-Cofiño
R
R
Orera
M A
MA
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