POLYDACTYLY IN PFEIFFER SYNDROME II-OMIM #101600 A RARE ASSOCIATION
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 11
Abstract
Pfeiffer syndrome (PS) is a rare autosomal dominantly inherited disorder occurring in approximately 1:100,000 live births. Mutations of the fibroblast growth factor receptor 1(FGFR1) or FGFR2 gene can cause Pfeiffer syndrome. Craniosynostosis, brachycephaly, midfacial hypoplasia, broad deviated thumbs and great toes characterize the syndrome. Pfeiffer syndrome depending on severity of the phenotype is of three types. The types 2 and 3 occur as sporadic cases and have poor prognosis. We report a case of Pfeiffer Syndrome type 2 having polydactyly, which to the best of our knowledge is first case of such an association.
Authors and Affiliations
Deepa Kundargi, Prasad K. N. V. , Shilpa C
Keywords
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- EP ID EP226447
- DOI 10.18410/jebmh/2015/241
- Views 76
- Downloads 0
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