Abstract
The Potocki-Shaffer syndrome (OMIM #601224) is a rare contiguous gene syndrome resulting from the microdeletion on chromosome 11p11.2p12. Patients show distinctive craniofacial abnormalities, a frequently generally retarded development, multiple exostoses, bifrontal foramina and genitourinary abnormalities. Less than fifty cases have been described in literature worldwide.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have