4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #pathophysiology ... endocrinology #peds ... #pediatrics
Caterpillar Sign in Infantile Hypertrophic Pyloric Stenosis - An upper gastrointestinal radiographic series was obtained (ultrasonography
Caterpillar Sign ... “caterpillar” sign ... This sign is visible ... #Clinical #Peds ... #Caterpillar #Sign
Pemberton’s Sign in a Patient with a Goiter- Physical examination revealed an enlarged thyroid with no
Pemberton’s Sign ... Pemberton’s sign ... was 0.2 mIU per liter ... Pemberton’s sign ... #sign #radiology