Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype

Am J Med Genet. 1996 Dec 2;66(1):104-12. doi: 10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 4*
  • Face / abnormalities
  • Female
  • Gene Deletion*
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • Syndrome