Unusually severe neonatal presentation of mediastinal bronchogenic cyst
Sign Up to like & getrecommendations! Published in 2024 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.27048
Abstract: Bronchogenic cysts are rare congenital malformations that occur in adults and children, with differences in distribution and presentation. We present the case of a newborn who initiated respiratory distress from the first minutes of life,… read more here.
Keywords: unusually severe; presentation mediastinal; mediastinal bronchogenic; severe neonatal ... See more keywords
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0057-z
Abstract: Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and… read more here.
Keywords: presentation; scoring system; course; foetal neonatal ... See more keywords