Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them

An 8-year-old girl with mild dysmorphic features presented for evaluation of developmental delay and staring spells. She had been born late preterm and spent 1 month in the neonatal intensive care unit. She was generally healthy other than her developmental delay, which improved somewhat with physical, occupational, and speech therapy. At the first clinic visit, her mother reported loss of previously mastered vocabulary and struggles with fine motor skills such as buttoning. She also noted repetitive movements, obsessive behaviors, and hand flapping.

Source: Neurology - October 23, 2017 Category: Neurology Authors: Lyons-Warren, A. M., Cheung, S. W., Holder, J. L. Tags: All Pediatric, Developmental disorders, Neurofibromatosis, Chromosomes RESIDENT AND FELLOW SECTION Source Type: research