hrp0086p2-p845 | Syndromes: Mechanisms and Management P2 | ESPE2016
Genens Mikayir
, Altunoglu Umut
, Bas Firdevs
, Poyrazoglu Sukran
, Abali Zehra Yavas
, Bundak Ruveyde
, Darendeliler Feyza
Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...