IMPE Abstracts

Introduction: Noonan syndrome-like is a developmental disorder with heterogenic phenotype (macrocephaly, dysmorphic facial features, congenital heart disease, motor delay, short stature in 31% of cases etc.). These patients carry rare heterozygous mutations in the CBL gene, with an increased risk of malignancies, particularly juvenile myelomonocytic leukemia.Methods: A 2.5-year-old boy, born in term with intrauterine gro...