Carried by: Neurosphinx/AnDDi-Rares
References:
Clinician(s): Jean-Marie JOUANNIC
Biologist(s): Christèle DUBOURG
Presentation
Paediatric, adult patients and fetuses in cases of termination of pregnancy with open or closed dysraphisms with precise phenotypic characterisation:
- Paediatric and adult patients: characterisation by neurosurgeons, functional rehabilitation physicians and physicians with expertise in the management of patients with dysraphisms
- Fetuses in case of termination of pregnancy: characterisation by reference neuroimaging and post-mortem examination
After karyotyping and ACPA, as long as genomic rearrangements are not identifiable on the platforms.
Criteria before considering a discussion in MDM-FMG
Characterisation of the type of dysraphism based on:
- Clinical examination and imaging
- post mortem examination in cases of TOP
- Family history of dysraphism (genetic counselling consultation)
- Absence of karyotype abnormalities and ACPA
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM-FMG Dysraphisms
National
Paris / Rennes
Paris
Jean-Marie JOUANNIC
Rennes
Sylvie ODENT