6 results
Infantile Spasms 
Associated with Tuberous Sclerosis 
1) Flexor spasms: Sudden flexion of neck, trunk, arms, and
Infantile Spasms ... of the legs Clinical ... seizures #Infantile ... #Spasms #Peds # ... Pediatrics #Diagnosis
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
perioral cyanosis- A blue color around the lips and philtrum is a relatively common finding shortly
perioral cyanosis ... #clinical #photo ... #peds #pediatrics ... #newborn #perioral
Perioral cyanosis- Another newborn with perioral cyanosis clearly demonstrates that although the philtrum and upper chin
Perioral cyanosis ... Another newborn with perioral ... #perioral #cyanosis ... #clinical #photo ... #peds #pediatrics
Acrocyanosis- Shortly after birth, cyanosis of the hands, feet, and perioral area are common findings. In
hands, feet, and perioral ... In this photo, notice ... #clinical #photo ... #newborn #peds ... #pediatrics #acrocyanosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics