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The exact number of global confirmed cases of coronavirus disease (COVID-19) in children is unknown. Since the first case report in a child, 2.2%-6.7% of reported cases from China, the [...]

Systemic capillary leak syndrome (SCLS) is an extremely rare disease of unknown incidence (1). Typical manifestations of SCLS include hypotension, edema, hemoconcentration, and hypoalbuminemia after nonspecific prodromal illnesses (1,2). Increased [...]

A young man with smoldering multiple myeloma died of hypotensive shock 2.5 days after severe acute respiratory syndrome coronavirus 2 vaccination. Clinical findings suggested systemic capillary leak syndrome (SCLS); the patient had experienced a previous suspected flare episode. History of SCLS may indicate higher risk for SCLS after receiving this vaccine. [ABSTRACT FROM AUTHOR]

Baraitser-Winter Cerebro-fronto-facial syndrome (BWCFF, OMIM #243310, #614583) is caused by a heterozygous gain-of-function mutation of ACTB and ACTG1 that encodes actin. The syndrome is characterized by striking facial features, structural brain abnormalities, ocular coloboma, hearing loss, cardiac defects, intellectual disabilities, short stature, and developmental delay. We report a two-year-old girl who had distinctive facial features, including hypertelorism, arched eyebrows, bilateral ptosis, short broad nose with a flat nasal tip, long philtrum, retrognathia, low-set ears, and a thin upper lip. In addition, she also exhibited short stature, pectus excavatum, developmental delay, brain malformation, and hearing loss. Targeted gene panel sequencing identified a de novo heterozygous missense variant c.826G>A (p.Glu276Lys) in ACTB This is the first Korean case of BWCFF with a novel mutation in ACTB ., (© 2020 by the Association of Clinical Scientists, Inc.)