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.

• Authors: Maureen Murphy-Ryan, Dusica Babovic-Vuksanovic, Noralane Lindor
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 4 Pg. 855-9 (Apr 2011) ISSN: 1552-4833 [Electronic] United States
• PMID: 21412975 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Wiley-Liss, Inc.

Chemical References

• Contractile Proteins
• Filamins
• Microfilament Proteins

Topics

• Amino Acid Substitution (genetics)
• Brain (diagnostic imaging, pathology)
• Contractile Proteins (genetics)
• Corneal Opacity (complications)
• Craniofacial Abnormalities (complications, diagnostic imaging, genetics)
• Dandy-Walker Syndrome (complications)
• Filamins
• Hand Deformities, Congenital (complications, diagnostic imaging, genetics)
• Humans
• Infant, Newborn
• Male
• Microfilament Proteins (genetics)
• Mutation (genetics)
• Osteochondrodysplasias (complications, diagnostic imaging, genetics)
• Phenotype
• Radiography
• Tongue, Fissured (complications)