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. Author manuscript; available in PMC: 2016 Jun 6.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2008;9:303–320. doi: 10.1146/annurev.genom.9.081307.164211

Figure 5.

Figure 5

Phenotypic features in Roberts-SC phocomelia syndrome. Both patients have the same causative mutations in ESCO2 (establishment of cohesion 1 homolog 2). (a) Typical features of SC phocomelia, including upper limb long bone shortening (radial hypoplasia > ulnar hypoplasia) and contractures with relative sparing of lower extremities. (b) Roberts syndrome patient with more severe phenotype, including tetraphocomelia and craniofacial abnormalities. Photographs courtesy of Dr. Hugo Vega from the Mount Sinai School of Medicine and Universidad Nacional de Colombia.