Roberts syndrome: facial dysmorphology in a mildly affected case

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

“…Lower musculoskeletal involvement is a common clinical finding in other cohesinopathies like Roberts-SC Phocomelia syndrome, in which hypomelia, tetraphocomelia, absence or reduction in length of the upper and/or lower extremities can be seen [Ahmed et al, 2009]. However, in CdLS severe reduction defects of the lower extremities are infrequent, and the reported cases included bilateral hypoplasia or aplasia of the tibia and/or the fibula and more rarely bifurcated femur [Kline et al, 2007;Pfeiffer and Correll, 1993].…”