993 results
diagnosis signs management pathophysiology clinical differential algorithm neurology syndrome treatment cardiology physicalexam comparison video msk psychiatry disease table rheumatology gastroenterology
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Syndrome - Signs and Symptoms ... fibrillin function - Autosomal ... Diagnosis #Signs #Symptoms
Malignant Hyperpyrexia A rare complciation of halothane or suxamethonium. Predisposition to developing this is inherited (autosomal dominant). #Malignant #Hyperpyrexia
is inherited (autosomal ... Hyperthermia #Signs #Symptoms
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) Hereditary multiple neurofibromas. Autosomal dominant with high rate
Autosomal dominant ... Syndrome #Signs #Symptoms
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Fibrosis An autosomal ... CysticFibrosis #Signs #Symptoms
Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population
syndrome • An autosomal ... examination; nonspecific symptoms ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... mutations • Autosomal ... OPA1) gene • Autosomal
Krabbe Disease Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
• Autosomal ... neurotoxic • Symptoms
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
live births Symptoms ... arrest/death - Symptoms ... • May be autosomal
Myotonic Dystrophy Typically presents in middle age with weakness of hands, legs and neck. - Mental deficiency
can occur) - Autosomal ... Diagnosis #signs #symptoms
Features of a Sickle Cell Crisis Sickle-cell disease - an autosomal recessive blood disorder. Characterized by red
Sickle-cell disease - an autosomal ... Features #Signs #Symptoms
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