title: Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?
abstract: We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.
authors.affiliation: Spectrum Health Genetics Services, Grand Rapids, MI, USA.
authors.forename: Helga V
authors.initials: HV
authors.lastname: Toriello
authors.forename: Edmond G
authors.initials: EG
authors.lastname: Lemire
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D001049:Apnea / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006222:Hamartoma / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009900:Optic Nerve / Q000002:abnormalities*; D017689:Polydactyly / Q000473:pathology; D014059:Tongue / Q000473:pathology