Potocki-Shaffer Syndrome: Causes, Symptoms & Treatment
Potocki-Shaffer syndrome is a skeletal malformation syndrome characterized by exostoses, often intelligence deficiency, and craniofacial abnormalities. It is caused by a deletion of genes in locus 11p11.2 on chromosome 11. Treatment is purely symptomatic supportive and limited to measures such as early intervention. What is Potocki-Shaffer syndrome? Monosomies are variants of genomic mutation in which … Potocki-Shaffer Syndrome: Causes, Symptoms & Treatment