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

American Journal of Medical Genetics
M C Lindeman-KusseH 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.

References

Jan 1, 1989·American Journal of Medical Genetics·J W Oorthuys, E M Bleeker-Wagemakers
Oct 1, 1984·American Journal of Medical Genetics·D B PittD M Danks
Feb 13, 1995·American Journal of Medical Genetics·L A Lizcano-GilJ Sánchez-Corona

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Citations

Sep 17, 2008·American Journal of Medical Genetics. Part a·Jeanie C WorthingtonOliver W Quarrell
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marcella ZollinoGiovanni Neri
Dec 9, 2003·Annales de génétique·Vijay S TonkGopalrao V N Velagaleti
Aug 18, 2000·American Journal of Medical Genetics·K A LeppigT Norwood
Dec 2, 1996·American Journal of Medical Genetics·C E de Die-Smulders, J J Engelen
Mar 3, 1998·American Journal of Medical Genetics·T J WrightM R Altherr
Dec 2, 1996·American Journal of Medical Genetics·D Donnai
Apr 27, 2004·American Journal of Medical Genetics. Part a·L TitomanlioE Del Giudice
Dec 2, 1996·American Journal of Medical Genetics·M ZollinoG Neri
Jun 11, 2005·American Journal of Medical Genetics. Part a·Laura RodríguezMaría Luisa Martínez-Frías
Jun 24, 2004·Nature Reviews. Genetics·Han G Brunner, Marc A van Driel
Jul 9, 2004·European Journal of Human Genetics : EJHG·Marcella ZollinoGiovanni Neri
Jul 28, 2011·European Journal of Human Genetics : EJHG·Peter HammondOliver Quarrell
Mar 7, 1998·American Journal of Medical Genetics·A Battaglia, J C Carey
Nov 24, 1999·Clinical Genetics·A M InnesA J Dawson

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