488 - Oral findings of infant with oral-facial-digital syndrome type I

Introduction: Oral-facial-digital syndrome is a group of developmental disorders that represent distinctive genetic anomalies of the oral cavity, face, and digits. There are 14 reported types, with varying inheritance and phenotypes. The most common reported is OFDS type I, which is X-linked dominant and therefore female predominant.  

Case Report: This presentation discusses a four day old infant who presented at the NICU of Children’s Wisconsin with a lobulated tongue and presumed natal teeth. This patient has been followed by the dental team in her first year of development, with persistent lobulated tongue, multiple strong frenula, possible tooth buds or redundant alveolar tissue, palatal fissure, and bifid uvula.  She has also been followed by genetics and was diagnosed with OFDS-I, by neurology due to agenesis of corpus callosum, by speech/feeding therapy due to concern of oral dysphagia, and by plastic surgery. Physical and occupational therapies have been involved as part of birth to three early intervention. She is gaining weight and developmental skills appropriately. This case report will include clinical and radiographic findings associated with OFDS-I, the importance of interprofessional collaboration, and possible future treatment needs and considerations for our patient.

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