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

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8 Citations (Scopus)

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. © 2011 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)855-859
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number4
DOIs
StatePublished - Apr 2011

Fingerprint

Dandy-Walker Syndrome
Tongue
Mutation
Type 2 Oto-palato-digital syndrome

Keywords

  • Bifid tongue
  • Corneal opacity
  • Dandy-Walker malformation
  • Filamin A
  • Otopalatodigital syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2",
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. {\circledC} 2011 Wiley-Liss, Inc.",
keywords = "Bifid tongue, Corneal opacity, Dandy-Walker malformation, Filamin A, Otopalatodigital syndrome",
author = "Maureen Murphy-Ryan and Dusica Babovic-Vuksanovic and Lindor, {Noralane Morey}",
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AU - Murphy-Ryan, Maureen

AU - Babovic-Vuksanovic, Dusica

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N2 - 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.

AB - 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.

KW - Bifid tongue

KW - Corneal opacity

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KW - Filamin A

KW - Otopalatodigital syndrome

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