Eduardo Perrone, Antonio Victor Campos Coelho, Luiza do Amaral Virmond, Jessica Grasiela de Araujo Espolaor, João Bosco de Oliveira Filho, Amanda Thamires Batista do Nascimento, Marina Cadena da Matta, Joanna Goes Castro Meira, Laércio Moreira Cardoso-Júnior, Ana Camila Mendes Andrade, Ricardo Zantieff Topolski Chaves, Angelina Xavier Acosta
Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome. ELMO2 biallelic pathogenic variants were also described in patients with a primary intraosseous vascular malformation (PIVM; OMIM #606893). These patients presented gingival bleeding and cherubism phenotype...
March 22, 2024: American Journal of Medical Genetics. Part A