3M syndrome patient with a novel mutation: A case report

Figure 1 Clinical features of 3M syndrome. A: Facial and body features; B: X-rays showing the slender long tubular bones, thoracic scoliosis, tall vertebral bodies and small pelvis; C: Computed tomography showing the thoracic scoliosis and tall vertebral bodies.

Figure 2 Schematic representation of protein and compound heterozygous variants in OBSL1. Sequence analysis of OBSL1 showing heterozygous variant c.5683+1G>C (Splice-3) in intron and c.3341G>A (p.Trp1114Ter) in exon derived from the father and mother, respectively. Father were heterozygous for the c.5683+1G>C variant and mother were heterozygous for the c.3341G>A variant.