Phelan-McDermid Syndrome.
Phelan-McDermid syndrome is a rare neurodevelopmental syndrome associated with severe intellectual disability, motor delay, and autistic traits. This article reviews a case of a complicated presentation of Phelan-McDermid syndrome and addresses etiology, diagnosis, and management.
Gayle Leary
GL
Omansky
Elisa
E
Abdulhayoglu
Bella
B
Zhurbilo
D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000517:prevention & control / Q000628:therapy*; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007223:Infant; D007231:Infant, Newborn