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.
MeSH terms
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Amino Acid Substitution / genetics
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Brain / diagnostic imaging
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Brain / pathology
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Contractile Proteins / genetics
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Corneal Opacity / complications*
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Craniofacial Abnormalities / complications
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Craniofacial Abnormalities / diagnostic imaging
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Craniofacial Abnormalities / genetics
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Dandy-Walker Syndrome / complications*
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Filamins
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Hand Deformities, Congenital / complications
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / genetics
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Humans
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Infant, Newborn
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Male
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Microfilament Proteins / genetics
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Mutation / genetics
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Osteochondrodysplasias / complications
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Osteochondrodysplasias / diagnostic imaging
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Osteochondrodysplasias / genetics
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Phenotype
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Radiography
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Tongue, Fissured / complications*
Substances
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Contractile Proteins
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Filamins
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Microfilament Proteins
Supplementary concepts
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Oto-palato-digital syndrome, type 2