| Popis: |
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. |
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