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.
authors.affiliation: Mayo Medical School, Rochester, Minnesota, USA.
authors.forename: Maureen
authors.initials: M
authors.lastname: Murphy-Ryan
authors.forename: Dusica
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.forename: Noralane
authors.initials: N
authors.lastname: Lindor
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003285:Contractile Proteins / Q000235:genetics; D003318:Corneal Opacity / Q000150:complications*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000150:complications*; D064448:Filamins; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D014063:Tongue, Fissured / Q000150:complications*
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins