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Irish Journal of Medical Science (1971 -)
Published in: Irish Journal of Medical Science (1971 -) 3/2016

01-08-2016 | Case based review

Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery

Authors: T. A. Curran, K. Cronin

Published in: Irish Journal of Medical Science (1971 -) | Issue 3/2016

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Abstract

Background

Greig cephalopolysyndactyly syndrome (GCPS) is an uncommon entity characterised by polysyndactyly and craniofacial features. The syndrome is not defined by classic signs. Instead there is a high variability in phenotypes observed. This is due to the large number of different mutations in the glioma-associated oncogene 3 (GLI3) that can give rise to the syndrome. We present a case series of five un-related individuals with GCPS treated in our hand surgery unit with different phenotype presentations of GCPS.

Conclusion

An awareness of the diversity in phenotypes is important for diagnosis and early referral for genetic confirmation and counselling.
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Metadata
Title
Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery
Authors
T. A. Curran
K. Cronin
Publication date
01-08-2016
Publisher
Springer London
Published in
Irish Journal of Medical Science (1971 -) / Issue 3/2016
Print ISSN: 0021-1265
Electronic ISSN: 1863-4362
DOI
https://doi.org/10.1007/s11845-015-1279-4

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