3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
decade of life, Males ... =Females SIGNS/ ... SYMPTOMS: • Acute ... • Symptoms: Cough ... identified (autoimmune, meds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
be labeled as males ... Signs/Symptoms/Complications ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds