Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.

@article{Stagi2008PartialGH,
  title={Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.},
  author={Stefano Stagi and Giuseppe Bindi and Fiorella Galluzzi and Elisabetta Lapi and Roberto Salti and Francesco G Chiarelli},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 12},
  pages={1598-604}
}
The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that… CONTINUE READING
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