Congenital Syphilis Misdiagnosed as Suspected Nonaccidental Trauma.

Congenital syphilis (CS) is a preventable infection, yet the incidence has surged to the highest rates in 20 years. Because 50% of live-born infants with CS are asymptomatic at birth, there is an increasing likelihood that pediatric providers will encounter older infants whose diagnoses were missed at birth, emphasizing the importance of timely prenatal screening and treatment. We present one such case of an infant admitted twice at 3 and 4 months of age with long bone fractures and suspected nonaccidental trauma.

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region.