- EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension and cyanosis.
- TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in young women.
- DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon crease in hand
- KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in gonadotropins inurine.
- MARFAN SYNDROME: Connective Tissue disorder ------> o Arachnodactyly: Abnormally long digits and extremities ,Subluxation of lens , Dissecting aortic aneurism
- POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella infection during first trimester. characteristics:Microphthalmos, cataracts ,Deafness ,Mental retardation , Patent ductus arteriosis, Pulmonary arterial stenosis
- CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and characteristics:Fatness of face and trunk with wasting of extremities, Buffalo hump, Bone decalacification, Corticoid diabetes, Hypertension
- SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism
- TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male Psuedo hermaphroditism Complete female external genatalia, incompletely developed vagina, rudimentary uterus.
- KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting from chronic sinusitis and bronchiectasis.
- GUILLAIN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause. Glove and stocking, Acendens Paralisis, phalen and thinel sign .
- HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and Geniculate Ganglion ------> facial palsy. Zoster of ear ,treat with carbamazepin
- SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis. TEN +, Usually in a child
- STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication. characteristics:Large areas of skin slough, including mouth and anogenital membranes.Mucous membranes: stomatitis, urethritis, conjunctivitis.Headache, fever, malaise.
- HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------Ptosis, miosis, anhydrosisEnophthalmos (caved in eyes)
- ARGYLL ROBERTSON--> Pada pasien syphilis , tumor otak , DM , Meningitis . ditandai akomodasi +, reflek cahaya langsung dan tak langsung negative.
- MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting ------> hematemesis. Often seen in alcoholics and pregnancy women.
- MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------> diarrhea, weakness, weight loss, or symptoms from specific deficiencies. Usually in marasmus and Ascaris infection.
- BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of esophageal columnar epithelium ------> squamous epithelium. Lesion precancer.
- LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs. Due ascaris infection ( larva). Treat with operation .
- SJoGREN'S SYNDROME: Autoimmune complex with Keratoconjuctivitis Sicca (dry eyes and mouth), Dryness of Mucous membranes, Telangiectasias in face, Parotid enlargement
- Marfan's Syndrome Autosomal Dominant Disorders , Fibrillin deficiency ------> faulty scaffolding in connective tissue (elastin has no anchor). Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.
- Down Syndrome (Trisomy 21)-->Chromosomal Trisomy 21, with risk increasing with maternal age. Familial form (no age-associated risk) is translocation t(21,x) in a minority of cases. Most common cause of mental retardation. Will see epicanthal folds, simian crease, brushfield spots in eyes. Associated syndromes: congenital heart disease, leukemia, premature Alzheimer's disease (same morphological changes).
- Edward's Syndrome Trisomy 18--->Mental retardation, micrognathia, rocker-bottom feet, congenital heart disease, flexion deformities of fingers. Death by 1 year old.
- Patau's Syndrome (Trisomy 13)-->Chromosomal Trisomy 13 Mental retardation, microphthalmia, cleft lip and palate, polydactyly, rocker-bottom feet, congenital heart disease. Similar to and more severe than Edward's Syndrome. Death by 1 year old.
- Klinefelter's Syndrome (XXY) Chromosomal, Sex chromosome , Non-disjunction of the sex chromosome during Anaphase I of meiosis ------> Trisomy (47,XXY) Hypogonadism, tall stature, gynecomastia. Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear.
- Turner's Syndrome (XO), Sex chromosome ,Non-disjunction of the sex chromosome during Anaphase I of meiosis ------> Monosomy (45,X) Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta, infantile genitalia. No mental retardation. No Barr bodies visible on buccal smear.
- Hemophilia A (Factor VIII Deficiency) Hemophilia X-Linked Recessive. Factor VIII deficiency Hemorrhage, hematuria, hemarthroses. Prolonged PTT.
- Hemophilia B (Factor IX Deficiency) Hemophilia X-Linked Recessive. Factor IX deficiency. Milder than Hemophilia A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT.
- Von Willebrand Disease Hemophilia Autosomal dominant and recessive varieties. Von Willebrand Factor deficiency ------> defect in initial formation of platelet plugs, and shorter half-life of Factor VIII in blood. Hemorrhage, similar to hemophilia.Type-I: Most mild. Type-II: Intermediate. Type-III: most severe, with recessive inheritance (complete absence).
- WEBER Syndrome( hemiplegic alternant nervy occulomotor) , paralisis N.3 homolateral ,paralisis N.7 ,N12 dan ekstermitas sisi kontralateral ( UMN)
- FOSTER KENEDY syndrome-->Anopsia ipsi lateral , atrofi optic ipsi lateral , papil edema, sering pada tumor tulang sphenoid
RADIOLOGI
- Apple Core lesion ?signifies annular carcinomas of the colon?looks like an apple core or napkin ring(see below) due to circumferential narrowing of the lumen, noted on contrast studies. Usually in Crohn disease
- Air Bronkogram ---HMD and Pneumonia
- Bronkial Cuffing ----pneumonia Intertisial
- Bamboo Spine ?fused spinal segments with their syndesmophytes look, on radiographs, similar to bamboo stalks?classically associated with ankylosing spondylitis.
- Bat's Wing/Butterfly ?this appearance on CXR is classically associated with CHF and resultant pulmonary edema.
- Bird's Beak? noted on Upper GI with contrast, a dilated upper/middle esophagus with an abrupt taper to exceptionally narrowed lumen, typical of achalasia.
- Boot-shaped Heart ?due to RVH, the LV is lifted above the edge of the diaphragm, forming the ?toe? of the boot. Classic for Tetralogy of Fallot.
- Cobblestone appearance? this sign is produced on barium studies due to ulcerative pockets, usually in the terminal ileum, indicative of Crohn's.
- Codman's Triangle ?a triangle on plain film of extremities that signifies reactive bone, classically associated with osteosarcoma, or other infectious/hemorrhagic process that causes periosteal elevation.
- Coin lesion? solitary pulmonary nodule; may be cancer or granuloma.
- Cookie Cutter lesions? metastatic lesions to bone cortex, or Paget's.
- Crescent sign? classic sign of avascular necrosis, femoral head.
- Double rim and acaustic shadow in posterior due cholesistitis acuteDouble buble?obstruksi duedenum
- Egg-on-a-string? a large, ovoid-shaped heart on newborn CXR, classically signifying complete transposition of the great vessels with intact ventricular septum.
- Ground glass? a ?white-out? on CXR, usually PCP pneumonia or ARDS.
- Hampton's Hump? a peripheral triangle, usually near pleural edges, classically PE.
- Honeycomb lung? used to describe any pathologic process that causes radiographic appearance of multiple small, thick-walled cystic spaces; e.g. pulmonary fibrosis. bronchiectasis
- Lead pipe sign? classic narrowing of bowel lumen, with loss of haustra?UC.
- Napkin Ring sign? see Apple core lesion above; pathology identical, but lumen more narrowed. In Colitis ulser.
- Onion-skinning ?layered look of periosteum in Ewing's Sarcoma.
- Rachitic Rosary ?this is a ?string of beads? appearance on x-ray, a thickening of costochondral margins that is noted in Ricketts(Vit. D Deficiency).
- Sail sign ?fat pad noted on plain film, indicative of shoulder disclocation.
- Scotty dog(collar) ?on posterior oblique, the lumbar vertebrae look like a Scottish terrier. The neck is the pars interarticularis, and a break(a collar) noted there indicates spondylolysis.
- Silhouette sign ?obliteration of cardiovascular silhouette due to adjacent disease, ie pneumonia, TB, etc.
- Stepladder appearance ?distended bowel loops, often indicative of obstruction, usually SBO.
- String sign ?thin, slightly irregular shadow in narrowed lumen of ileum, suggestive of Crohn's.
- Starry Sky ?Limfoma burkit
- Sel Red Stenberg ---Limfoma Hodgin
- Punched out?Multiple myloma
- Hearing Bone and Step leader ---Ileus obstruksi
- Sunburst appearance??clouds, clumps, and consolidated rays? of tissue emanating from bone cortex, or within bony structures, indicative of osteosarcoma.
- Thumb(print) sign ?on lateral c-spine, an enlarged epiglottis appears as a ?thumb??epiglottitis.
- Westermark's sign ?abrupt end to a pulmonary vessel, signifying oligemia or PE.
reff : http://septiana-myworld.blogspot.com/2011/03/glossary.html
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