Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Véronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, Nathalie Mejean, John Dean, Brunella Franco, Diana Rodriguez, Didier Lacombe, Isabelle Desguerres, Valérie Cormier-Daire, Bérénice Doray, Laurent Pasquier, Marie Gonzales, Matthew Pastore, Melissa L. Crenshaw, Frédéric Huet, Nadège Gigot, Bernard Aral, Patrick Callier, Laurence FaivreTania Attié-Bitach, Christel Thauvin-Robinet

Research output: Contribution to journalArticlepeer-review

Abstract

Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neurological and radiological data of 6 additional OFD VI patients. All patients presented oral malformations, facial dysmorphism and distal abnormalities including frequent polydactyly (66%), as well as neurological symptoms with moderate to severe mental retardation. Contrary to historically reported patients, mesoaxial polydactyly did not appear to be a predominant clinical feature in OFD VI. Sequencing analyzes of the 14 genes implicated in JSRD up to 2011 revealed only an OFD1 frameshift mutation in one female OFD VI patient, strengthening the link between these two oral-facial-digital syndromes and JSRD.

Original languageEnglish (US)
Pages (from-to)301-308
Number of pages8
JournalEuropean Journal of Medical Genetics
Volume56
Issue number6
DOIs
StatePublished - Jun 2013
Externally publishedYes

Keywords

  • Cerebellar malformation
  • Joubert syndrome and related disorders
  • Molar tooth sign
  • OFD VI syndrome
  • OFD1
  • Oral-facial-digital syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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