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diagnosis differential newborn pathophysiology 21hydroxylasedeficiency 21ohd depressed developmentaldelay endocrinology examination infant lethargic physicalexam praderwilli
Causes of Depressed / Lethargic Newborn - Differential Diagnosis Algorithm Maternal Related: • Drugs (Ex. SSRI) •
Causes of Depressed ... Respiratory Distress Syndrome ... • Anemia • Shock ... #Causes #Peds # ... Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Differential Diagnosis Algorithm ... • Genetic Disorder ... #Causes #Peds # ... Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... vomiting • Late (shock ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
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