3M syndrome is an autosomal recessive condition characterized by pre- and post-natal growth restriction, facial features, normal intelligence and skeletal changes in the absence of recognizable maternal or placental pathology. 3M syndrome is grouped under “Slender Bone Dysplasia Group” according to Nosology and Classification of Genetic Skeletal Disorders. Homozygous or compound heterozygous mutations in either CUL7, OBSL1 or CCDC8 which constitute a 3M complex required in the regulation of microtubule dynamics and genome integrity have been identified in the etiology so far. Since higher rate of consanguineous marriages likely increases the frequency of autosomal recessive entities, 3M syndrome should be kept in mind in patients presenting with severe short stature and growth restriction with normal intelligence especially in patients with parental consanguinity. In this review clinical and radiographic findings of 3M syndrome and recent advances in genetic etiology will be discussed.

Keywords: 3M syndrome, consanguineous marriage, severe short stature