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Bifid tongue, corneal clouding, and Dandy–Walker malformation in a male infant with otopalatodigital syndrome type 2
Author(s) -
MurphyRyan Maureen,
BabovicVuksanovic Dusica,
Lindor Noralane
Publication year - 2011
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.33901
Subject(s) - flna , tongue , medicine , anatomy , corneal diseases , ophthalmology , cornea , biology , genetics , pathology , filamin , cytoskeleton , cell
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 . © 2011 Wiley‐Liss, Inc.