DiGeorge Syndrome
24. DiGeorge Syndrome Definition DiGeorge syndrome is a congenital disorder involving hypoplasia or aplasia of the thymus and parathyroid glands secondary to defective development of the third and fourth pharyngeal…
ANESTHESIA
Fanconi Syndrome
33. Fanconi Syndrome Definition Fanconi syndrome is an autosomal recessive, inherited disorder characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discolorations resulting from melanin deposits. The melanin deposits…
Cystic Fibrosis
20. Cystic Fibrosis Definition Cystic fibrosis (CF) is an ultimately lethal inherited disorder. It predominately affects the function of endocrine glands, with wide-ranging effects on multiple organ systems, including the…
Cor Pulmonale
18. Cor Pulmonale Definition Cor pulmonale is the alteration of the structure and function of the right ventricle as the result of a primary respiratory disorder. Pulmonary hypertension generally results…
Felty Syndrome
34. Felty Syndrome Definition Felty syndrome is a potentially serious condition associated with seropositive rheumatoid arthritis. It is characterized by rheumatoid arthritis along with splenomegaly and granulocytopenia. Incidence Felty syndrome…
Fabry’s Disease
31. Fabry’s Disease Definition Fabry’s disease is a genetic, congenital, X-linked disorder of glycosphingolipid metabolism that is progressive, destructive, and potentially fatal. Incidence Internationally, among males, the incidence of Fabry’s…
Beta Thalassemia
14. Beta Thalassemia Definition Beta thalassemia is an inherited blood disease of abnormal hemoglobin production in which both beta-globin subunit components of normal hemoglobin are absent. Incidence The estimated incidence…
Eaton-Lambert Myasthenic Syndrome
26. Eaton-Lambert Myasthenic Syndrome Definition Eaton-Lambert myasthenic syndrome (ELMS) is an autoimmune disease in which autoantibodies attack the voltage-gated calcium channels (VGCC), thus interfering with the release of acetylcholine at…
Denervated (Transplanted) Heart
22. Denervated (Transplanted) Heart Definition Denervated, or transplanted, heart is not a disease and is something of a misnomer. The denervated heart is a heart that has been donated and…
Cystic Hygroma
21. Cystic Hygroma Definition Cystic hygroma is a lymph angioma composed of multiloculated, thin-walled cysts. It is typically benign. Incidence A rare congenital malformation, cystic hygroma occurs in approximately 1:12,000…
