CYTOGENETIC ABNORMALITIES IN 2 NEW PATIENTS WITH PITT-ROGERS-DANKS PHENOTYPE

We describe 2 patients with a combination of findings strikingly simil ar to those described by Pitt et al. [1984], consisting of severe ment al retardation, pre- and postnatal growth retardation, history of seiz ures, microcephaly, ocular proptosis, mid-face hypoplasia, short and f lat philtrum, and wide mouth. Our cases included, a total of only 9 pa tients has been described. One of our patients was treated with growth hormone and responded with a marked increase in growth velocity and s keletal maturation. Chromosome analysis was performed; both patients h ave a deletion of 4p as is found in Wolf-Hirschhorn syndrome. A compar ison is made between our patients and patients with the Wolf-Hirschhor n 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.