4 results
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
This is another example of facial bruising. Here again the face appears to be cyanotic (including
example of facial bruising ... manifestation of bruising ... #facial #bruising ... newborn #peds #pediatrics ... #clinical #photo
Facial bruising- Marked bruising of the face can occur during delivery. It is more common when
Facial bruising- ... Marked bruising ... #peds #pediatrics ... #clinical #photo ... #facial #bruising
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