7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Infertility • Decr Bone ... #pathophysiology ... #peds #pediatrics
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
tear a portion of bone ... Fractures #msk #diagnosis ... #pathophysiology ... #signs #symptoms ... #orthopedics
Anterior Shoulder Dislocation: Pathogenesis, clinical, and radiographic findings

Trauma, Fall on, outstretched arm, Overhead throwing => Abduction
and underlying bone ... #Dislocation #Diagnosis ... #signs #symptoms ... #msk #orthopedics ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... /Symptoms/Findings ... cells in blood and bone ... Agammaglobulinemia #XLinked #pathophysiology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis