Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

@article{Mitsui2014AcroscyphodysplasiaAA,
  title={Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2},
  author={Toshikatsu Mitsui and O. Kim and C. Hall and A. Offiah and D. Johnson and D. Jin and Teck-Hock Toh and Shun Soneda and D. Keino and S. Matsubayashi and T. Ishii and G. Nishimura and T. Hasegawa},
  journal={American Journal of Medical Genetics Part A},
  year={2014},
  volume={164},
  pages={2529 - 2534}
}
Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. [...] Key Method We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis.Expand
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References

SHOWING 1-10 OF 27 REFERENCES
Metaphyseal acroscyphodysplasia
  • 10
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
  • 90
  • Highly Influential
  • PDF
New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.
  • 11
  • PDF
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
  • 109
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
  • 84
  • Highly Influential
  • PDF
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
  • 33
Generalized metaphyseal modification with cone-shaped epiphyses following long-term administration of 13-cis-retinoic acid
  • 20
Humerus Varus in a Patient with Pseudohypoparathyroidism
  • 9
  • PDF
Traumatic cupping of the metaphyses of growing bones.
  • J. Caffey
  • Medicine
  • The American journal of roentgenology, radium therapy, and nuclear medicine
  • 1970
  • 22
...
1
2
3
...