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Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2

2011; Wiley; Volume: 155; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.33901

1552-4833

Maureen Murphy‐Ryan, Dusica Babovic‐Vuksanovic, Noralane M. Lindor,

Prenatal Screening and Diagnostics

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.