Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2 - PubMed (original) (raw)
Case Reports
. 2011 Apr;155A(4):855-9.
doi: 10.1002/ajmg.a.33901. Epub 2011 Mar 15.
Affiliations
- PMID: 21412975
- DOI: 10.1002/ajmg.a.33901
Case Reports
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2
Maureen Murphy-Ryan et al. Am J Med Genet A. 2011 Apr.
Abstract
We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. Bifid tongue and congenital corneal clouding have each only been described once previously in a patient with OPD2, and this is the first description of Dandy-Walker malformation (DWM) in OPD2. The presence of these clinical findings in a mutation-confirmed case of OPD2 supports the notion that corneal clouding, bifid tongue, and DWM are part of the constellation of abnormalities caused by mutations in FLNA.
Copyright © 2011 Wiley-Liss, Inc.
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