4 results
pathophysiology 21hydroxylasedeficiency 21ohd differential endocrinology examination newborn physicalexam praderwilli syndrome tachypnea wheeze wheezing
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
The infant with tachypnea or wheeze - Clinical Conditions to Consider - Bronchiolitis - Pneumonia
The infant with ... tachypnea or wheeze - Clinical ... Other causes #Diagnosis ... #Peds #Pediatrics ... #Differential #Assessment
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 #genetics ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... always needs urgent assessment ... #Examination #Peds ... #Pediatrics #Diagnosis
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