An adult with 3-M syndrome.

To cite: Kumar MH, Kumar MS, Siva Kumar V, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211429 DESCRIPTION 3-M syndrome is a rare autosomal recessive disorder characterised by short stature, dysmorphic facial features and skeletal abnormalities. Individuals with 3-M syndrome have a recognisable pattern of features including a triangular face with pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, a long philtrum, and a prominent mouth with full lips. In the spine, especially in the lumbar region, the vertebral bodies are tall and reduced in their anteroposterior and transverse diameters. The skeletal findings become more apparent with increasing age. Mutations in the CUL7, OBSL1 and CCDC8 genes have been associated with the condition. CUL7 is involved in chondrocyte growth and proliferation, and it is proposed that in 3-M syndrome, reduced cell mitosis during the early gestation period could be the cause of retarded growth. In particular, these mutations disrupt the ability of the protein cullin-7 to facilitate assemblage of the ubiquitin-proteasome complex involved in protein degradation. This finding supports the theory that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation (IUGR) in humans. The physical findings of several entities such as Silver-Russell syndrome (SRS) and Mulibrey nanism resemble those of 3-M syndrome. SRS has many similarities with 3-M syndrome, including IUGR, short stature, triangular face, relatively large skull,