02 December 2025
Beyond the Blue: a joint diagnosis
Chris Vedder Pediatrics
Ehlers-Danlos syndromes: Clinical manifestations and diagnosis
Micale, Lucia et al. Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome. AGenes vol. 12,12 1928. 29 Nov. 2021, doi:10.3390/genes12121928
Malfait, Fransiska et al. The 2017 international classification of the Ehlers-Danlos syndromes. American journal of medical genetics. Part C, Seminars in medical genetics vol. 175,1 (2017): 8-26. doi:10.1002/ajmg.c.31552
Thaddeus McFarlane Oncology
Levetan C, Van Gils J, Saba A, Rodríguez-Fonseca C, Fieggen K, Tooke L. Rubinstein-Taybi Syndrome: Presentation in the First Month of Life. The Journal of Pediatrics. 2022;249:106-10.
A Newborn with unexpected collapse
Koert De Waal Neonatology
Desai, Jay et al. “The danger of diazoxide in the neonatal intensive care unit.” Therapeutic advances in drug safety vol. 12 20420986211011338. 18 May. 2021, doi:10.1177/20420986211011338
Xiao, N et al. “Cardiogenic shock as the initial presentation of neonatal systemic hypertension.” Journal of neonatal-perinatal medicine vol. 6,3 (2013): 267-72. doi:10.3233/NPM-1370213
DOCUMENT DELIVERY REQUEST
Heart failure in children: Management
Lucy Logan AT, General Paediatrics
Kawasaki disease: Initial treatment and prognosis
The Royal Children’s Hospital Kawasaki disease
Zhao, Zhihui et al. “Predicting Kawasaki disease shock syndrome in children.” Frontiers in immunology vol. 15 1400046. 3 Jun. 2024, doi:10.3389/fimmu.2024.1400046
Sometimes it is a zebra: a case of thymic hypoplasia
Libby Forbes Paediatric Allergy and Immunology
DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis
Pala, Francesca et al. “Inborn errors of immunity associated with defects of thymic development.” Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology vol. 33,8 (2022): e13832. doi:10.1111/pai.13832
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