Premium
The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases
Author(s) -
Schrier Samantha A.,
Bodurtha Joann N.,
Burton Barbara,
Chudley Albert E.,
Chiong Mary Anne D.,
D'avanzo Maria Gabriella,
Lynch Sally Ann,
Musio Antonio,
Nyazov Dmitriy M.,
SanchezLara Pedro A.,
Shalev Stavit A.,
Deardorff Matthew A.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35415
Subject(s) - categorization , hypoplasia , medicine , psychology , computer science , artificial intelligence , surgery
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 cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the “classic” coarse facial features previously described; another displays “variant” facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole‐exome analysis. © 2012 Wiley Periodicals, Inc.