Article
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Orphanet journal of rare diseases - 11 Jan 2012
Poretti Andrea, Vitiello Giuseppina, Hennekam Raoul C M, Arrigoni Filippo, Bertini Enrico, Borgatti Renato, Brancati Francesco, D'Arrigo Stefano, Faravelli Francesca, Giordano Lucio, Huisman Thierry A G M, Iannicelli Miriam, Kluger Gerhard, Kyllerman Marten, Landgren Magnus, Lees Melissa M, Pinelli Lorenzo, Romaniello Romina, Scheer Ianina, Schwarz Christoph E, Spiegel Ronen, Tibussek Daniel, Valente Enza Maria, Boltshauser Eugen
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Cerebellar Diseases
- Cerebellum
- Child
- Child, Preschool
- Eye Abnormalities