Skin infections and lymph node abscesses are the most common manifestations of chronic granulomatous disease (CGD) during the first year of life. Intra-hepatic abscesses occur later on. The case reported concerns a 4 month-old infant, in whom the disease presented initially with liver abscesses.
View Article and Find Full Text PDFTrisomy-19 mosaicism was observed in lymphocytes of a newborn male with facial dysmorphism (upward slanting palpebral fissures, pointed nose, short upper lip, prominent antitragus), laryngeal stridor, and leucothrombopenia, and who died on day 13. Autopsy revealed no other major malformation but poor development of the cerebral sulci.
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