5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
clinical findings ... Signs/Symptoms ... fractures • Short ... #genetics #pathophysiology ... #peds #pediatrics
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... Reduced urine output ... #Signs #Symptoms ... #Dehydration #Peds ... #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
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 ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
infection of the hand ... the Fingers Clinically ... in innervation, genetics ... seen in Reiter's syndrome ... #Signs #PhysicalExam