| Literature DB >> 8957526 |
M C Lindeman-Kusse1, A Van Haeringen, J J Hoorweg-Nijman, H G Brunner.
Abstract
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.Entities:
Mesh:
Year: 1996 PMID: 8957526 DOI: 10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299