Mateus A de Souza, Jéssica K Hartmann, Laira F F Zottis, Thiago K K Gama, Ernani B da Rosa, Paulo R G Zen, Rafael F M Rosa
Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon finding, analyzing its possible role over morbidity, and mortality. The patient was a boy who, after birth, had tachypnea and paleness. He presented periods of respiratory dysfunction with need of ventilatory support. Respiratory syncytial virus test was positive...
March 2024: Journal of Pediatric Genetics