Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.
We describe 2 patients with a combination of findings strikingly similar to those described by Pitt et al. [1984], consisting of severe mental retardation, pre- and postnatal growth retardation, history of seizures, microcephaly, ocular proptosis, mid-face hypoplasia, short and flat philtrum, and wide mouth. Our cases included, a total of only 9 patients has been described. One of our patients was treated with growth hormone and responded with a marked increase in growth velocity and skeletal maturation. Chromosome analysis was performed; both patients have a deletion of 4p as is found in Wolf-Hirschhorn syndrome. A comparison is made between our patients and patients with the Wolf-Hirschhorn syndrome (4p-). We conclude that the Pitt-Rogers-Danks phenotype is associated with 4p- in our two patients and that the syndromic status of the Pitt-Rogers-Danks status should be reassessed.
Lindeman-Kusse
M C
MC
Institutions for the Mentally Disabled, Heemstede, The Netherlands.
Van Haeringen
A
A
Hoorweg-Nijman
J J
JJ
Brunner
H G
HG
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome