Targeted syndrom under study
NIM # 273750, # 612921, # 614205
Abstract
3M syndrome is characterised by severe pre- and postnatal growth retardation, typical facial features and normal intelligence. Homozygous or heterozygous compound pathogenic variants in CUL7, OBSL1 or CCDC8 have been identified. Most individuals are diagnosed after birth and only few clinical data are available on fetal presentations.
We collected two fetuses with a clinical and fetopathological description of 3M syndrome. We wish to report these data to better describe prenatal and the fetal phenotype of this rare skeletal dysplasia.
In this context, we are interested in collecting fetuses with 3M syndrome having biallelic variants (homozygous or compound heterozygous) of CUL7, OBSL1 or CCDC8.
If you have fetuses with molecular analysis, ultrasound and/or fetopathological description, we would be very grateful if you would contact us to collaborate.
Coordinating clinicians/researchers
Claire Beneteau – claire.beneteau@chu-nantes.fr
Institution
Service de Génétique Médicale, CHU de Nantes, Nantes, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No