Richner-hanhart syndrome and its otorhinolaryngologic manifestations - case report

• Main Authors: Tinoco, Luiz Eduardo Olivier, Pais, Daniela Silva, Lourenço Filho, Rodolfo Caldas, Scardini, Rovena, Falcão, Alice de Paula, Saraiva, Simone
• Format: Article
• Language: English
• Published: Thieme Revinter Publicações Ltda. 2011-07-01
• Series: International Archives of Otorhinolaryngology
• Subjects: micrognathia; liver cancer; tongue diseases.
• Online Access: http://www.internationalarchivesent.org/conteudo/acervo_eng.asp?id=797

Introduction: Richner-Hanhart Syndrome is characterized by the absence in a variable degree of distal portions of one or more extremities, in association with micrognathia and severe microglossia. The etiology of this infrequent syndrome remains unknown. Case Report: In this article, we report the case of a patient with Richner-Hanhart Syndrome, who showed an absence of the back third of the tongue, micrognathia, malformation of fingers and toes, as well as nasal septum deviation to the left. Final Comments: The treatment comprises a tyrosine-restricted diet together with a continuous follow-up with an otorhinolaryngologist and a physiotherapist.