7280 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... physicalexam #pediatrics #genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... PraderWilli #Syndrome #genetics
What's the LV Mass equation again? Nevermind I think I can eyeball it (A4C)

From what I
with a very rare genetic ... @EchoArt_UK #Clinical
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
disease, a rare genetic ... treatment with clinical ... cell transplant, clinical ... Diagnosis #MRI #Clinical
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
Pathogenesis and clinical ... regions suspected Genetics
Chronic Pancreatitis

Definition: A pathologic fibroinflammatory syndrome of the pancreas in individuals with genetic, environmental, and/or other
individuals with genetic ... Idiopathic) • G (Genetic ... sensitivity) Clinical
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic
What's the LV Mass equation again? Nevermind I think I can eyeball it (PSAX)

From what I
with a very rare genetic ... @EchoArt_UK #Clinical
B-Cell Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Clinical
 - Primarily a disease of childhood, 75% <6 yo
 - Increased
Lymphoblastic Lymphoma Clinical ... often based on genetics
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
biochemical & genetic ... Leigh #Syndrome #Clinical