4 results
21hydroxylasedeficiency 21ohd age clincial differential endocrinology examination hypertension newborn pathophysiology physicalexam radiology secondary wolmans xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... deficiencies present in infants ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
Newborn Infant - ... When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
Age Distribution of Hypertension Etiologies < 1 month - Renal arterial thrombosis - Congenital renal disease -
- Mendelian genetic ... #Hypertension #Causes ... #Secondary #diagnosis ... differential #age #pediatrics ... #peds
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