Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

  title={Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI},
  author={A Poretti and Giuseppina Vitiello and Raoul C Hennekam and Filippo Arrigoni and Enrico Bertini and Renato Borgatti and Francesco Brancati and Stefano D'Arrigo and Francesca Faravelli and L Giordano and T A G M Huisman and Miriam Iannicelli and Gerhard Josef Kluger and M{\aa}rten Kyllerman and Magnus Landgren and Melissa Lees and L Pinelli and R Romaniello and Ianina Scheer and Christoph Schwarz and Ronen Spiegel and Daniel Tibussek and Enza Maria Valente and Eugen Boltshauser},
  booktitle={Orphanet journal of rare diseases},
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a… CONTINUE READING