The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature

Eur J Med Genet. 2020 Apr;63(4):103830. doi: 10.1016/j.ejmg.2019.103830. Epub 2019 Dec 26.


Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal malformations including short stature, cone-shaped phalangeal epiphyses and Perthes-like changes of the hip. We describe the response to growth hormone (GH) treatment in a boy with TRPS. The patient presented at age 3.5 years for evaluation of short stature (-3.2SD). On physical examination, the characteristic facial phenotype of TRPS was noted. Radiographs showed cone-shaped phalangeal epiphyses and bilateral small and fragmented femoral heads. The diagnosis was confirmed by Sanger sequencing of the TRPS1 gene. Two GH stimulation tests revealed GH deficiency, and GH treatment was initiated. Subsequently, growth velocity improved, as did the radiographic appearance of the femoral epiphyses, as seen on sequential pelvis radiographs. This observation suggests the possibility of a beneficial effect of GH treatment on both height and epiphyses status in TRPS patient with GH deficiency. Further studies are needed to support the observation.

Keywords: Growth hormone; Hip dysplasia; TRPS.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Body Height
  • Child, Preschool
  • Growth Hormone / deficiency
  • Growth Hormone / therapeutic use*
  • Humans
  • Langer-Giedion Syndrome / drug therapy*
  • Male


  • Growth Hormone