Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to 
haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial 
abnormalities, developmental delay, intellectual disability, multiple exostoses, 
and biparietal foramina. In this study, six patients with the Potocki-Shaffer 
syndrome were identified and evaluated using a multidisciplinary protocol that 
included assessments by a geneticist, ophthalmologist, otolaryngologist, 
orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic 
studies included skeletal survey, magnetic resonance imaging of the brain, renal 
ultrasound, complete blood count, comprehensive metabolic panel, thyroid 
studies, and urinalysis. Using array comparative genomic hybridization, we 
further characterized the deletion in five of these patients. The results of 
these evaluations were combined with a comprehensive review of reported cases. 
Our data highlight the characteristic facial features, biparietal foramina, 
moderate-to-severe developmental delay and intellectual disability, myopia and 
strabismus, and multiple exostoses seen with this disorder. We also identify for 
the first time an association of Potocki-Shaffer syndrome with sensorineural 
hearing loss and autistic behaviors. Finally, we provide recommendations for the 
health maintenance of patients with Potocki-Shaffer syndrome.