6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical findings ... Signs/Symptoms ... #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
e.g. incidental CXR ... finding) ... Pulmonary: dyspnea ... Pulmonary and ... Diagnosis #Management #Signs
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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#LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Findings #Diagnosis ... #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 Findings ... 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
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
Pathologies - Findings ... in innervation, genetics ... , sarcoidosis, alopecia ... Diagnosis #Clinical #Signs ... #PhysicalExam #