The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

@article{Schrier2012TheCS,
  title={The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.},
  author={Samantha A Schrier and Joann Bodurtha and Barbara K. Burton and Albert E. Chudley and Mary Anne D. Chiong and Maria Gabriella D'avanzo and Sally Ann Lynch and Antonio Musio and Dmitriy M Nyazov and Pedro A. Sanchez-Lara and Stavit Allon Shalev and Matthew A Deardorff},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 8},
  pages={1865-76}
}
Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported… CONTINUE READING

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