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 ... delayed puberty -> Infertility ... 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 #genetics ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... is also a late sign ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
Facial bruising- Marked bruising of the face can occur during delivery. It is more common when
the body, the diagnosis ... #peds #pediatrics ... #clinical #photo ... facial #bruising #newborn