Open access
Oct 2026
A Familial Case of Thauvin-Robinet-Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation.
Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107) is a recently identified autosomal recessive disorder characterised by syndromic overgrowth, facial dysmorphism, mild intellectual disability, variable congenital anomalies, and occasional tumour occurrence. TROFAS results from homozygous or compound heterozygous v...
F. Ruscitti, Xénia Latypova, Faustine Ageorges et al.
· Clinical Genetics · 0 citations