Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000302
Abstract: Introduction Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was first described by Austrian physician Andreas Rett in 1966 (Rett, 1966). After a brief period of normal development, patients… read more here.
Keywords: congenital variant; mild presentation; presentation congenital; rett ... See more keywords
P1‐20: Adulthood presentation of congenital pulmonary airway malformation type‐1
Sign Up to like & getrecommendations! Published in 2021 at "Respirology"
DOI: 10.1111/resp.14150_20
Abstract: A healthy 25 year-old male presented to our emergency with a 1-day history of left pleuritic chest pain. He denied dyspnoea, haemoptysis or any risk factors for PE. He migrated to Australia from Fiji 2-years… read more here.
Keywords: lung volume; volume; presentation congenital; adulthood presentation ... See more keywords
[Atypical presentation of a congenital metastatic neuroblastoma with severe renal impact: case report].
Sign Up to like & getrecommendations! Published in 2021 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2021.e626
Abstract: Neuroblastoma is a neural crest-derived tumor and the most common malignant tumor in neonates. Its clinical presentation can be quite variable. In some cases, it presents as an aggressive metastatic disease whilst in others it… read more here.
Keywords: atypical presentation; presentation; severe renal; presentation congenital ... See more keywords