7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Poor suckling -> Neonatal ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Scarf Sign (Normal) on Physical Exam

The scarf sign is used to assess developmental age and muscle
Scarf Sign (Normal ... Exam The scarf sign ... muscle tone in neonates ... #Scarf #Sign #PhysicalExam ... #pediatrics #tone
Ebstein Anomaly
 • Prevalence
 • Pathophysiology
 • Presentation
 • Physical Examination Findings
 • Initial Management
 •
Prevalence • Pathophysiology ... Presentation • Physical Examination ... • Surgery in Neonates ... #cardiology #pediatrics ... #peds
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Peds #Pediatrics
Continuous Positive Airway Pressure in the Neonate

WHY CPAP? 
• Maintain airway patency 
• Helps avoid alveoli
Pressure in the Neonate ... auscultate for signs ... emmabuxton10 #CPAP #Neonate ... #Management #ABCs ... #ABCDE #Peds #Pediatrics