Orthopaedic conditions in Ras/MAPK related disorders.

@article{Reinker2011OrthopaedicCI,
  title={Orthopaedic conditions in Ras/MAPK related disorders.},
  author={Kent Alan Reinker and David A. Stevenson and Ann H. Tsung},
  journal={Journal of pediatric orthopedics},
  year={2011},
  volume={31 5},
  pages={599-605}
}
BACKGROUND The RAS/MAPK disorders [Noonan syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, and Leopard syndrome] are heterogenous conditions with phenotypic overlap. Their orthopaedic manifestations are not well defined, and their phenotypic similarity makes differentiating them difficult. METHODS We prospectively evaluated 60 individuals: 26 with Noonan syndrome, 32 with CFC syndrome, and 2 with Costello syndrome. Each individual underwent a structured orthopaedic history… CONTINUE READING
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The musculoskeletal phenotype of the RASopathies.

American journal of medical genetics. Part C, Seminars in medical genetics • 2011
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