| Eisenmenger's defect | The combination of ventricular septal defect with pulmonary hypertension and consequent right-to-left shunt through the defect, with or without an associated overriding aorta. Synonym: Eisenmenger's defect, Eisenmenger's disease, Eisenmenger's tetralogy. (05 Mar 2000) |
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| endocardial cushion defect | <radiology> Persistence of primitive atrioventricular canal and anomalies of AV valves associated with: Down syndrome: in 25% of Trisomy 21 an ECD is present; in 45% of ECD Trisomy 21 is present, asplenia/polysplenia types: complete (AV canal), partial findings: gooseneck deformity on angiogram, increased pulmonary vascularity, enlarged pulmonary artery, enlarged RV, LV, RA; normal LA (secondary to atrial septal defect) (12 Dec 1998) |
| enzyme defect | A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosaemia, an error in the handling (metabolism) of the sugar galactose. (12 Dec 1998) |
| fibrous cortical defect | A common 1 to 3 cm defect in the cortex of a bone, most commonly the lower femoral shaft of a child, filled with fibrous tissue. Nonosteogenic or nonossifying fibroma by convention refers to lesions greater than 3 cm in diameter. See: nonossifying fibroma. Synonym: nonosteogenic fibroma. (05 Mar 2000) |
| uterine filling defect | <radiology> Technical, bubble, blood clot, mucoid material, congenital fold, pseudoadhesions / ridging -- folds long axis, neoplasm, submucosal leiomyoma, adenoma, endometrial carcinoma, pregnancy-related, pregnancy, molar pregnancy, retained conceptus, polyp, septated uterus, synechiae, IUD, iatrogenic (post-op) (12 Dec 1998) |
| filling defect | Displacement of contrast medium by a space-occupying lesion in a radiographic study of a contrast-filled hollow viscus, such as a polyp on a barium enema; also applied to defects in the otherwise uniform distribution of radionuclide in an organ, such as a metastasis in the liver on a 99mTc-sulfur colloid scan. (05 Mar 2000) |
| filling defect in renal collecting system | <radiology> Common causes: transitional cell carcinoma, blood clot, lucent calculus (urate) less common causes: fungus ball, sloughed papilla, fibroepithelial polyp, invasion by hypernephroma, malakoplakia, vessel impression, metastases (12 Dec 1998) |
| lambdoid suture defect | <radiology> Well-defined lucent lesion, classically unilateral, associated with neurofibromatosis (12 Dec 1998) |
| luteal phase defect | Inadequate function of the corpus luteum that may prevent a fertilized egg from implanting in the uterus or may lead to early pregnancy loss. (09 Oct 1997) |
| adult pseudohypertrophic muscular dystrophy | Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal. Compare: Duchenne dystrophy. Synonym: Becker type tardive muscular dystrophy. (05 Mar 2000) |
| Becker's muscular dystrophy | An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles. (27 Sep 1997) |
| Becker type muscular dystrophy | A muscular dystrophy that has many of the clinical features of Duchenne muscular dystrophy e.g., symmetrical involvement of first the pelvicrural muscles and then the pectoral girdle and proximal upper extremity muscles; pseudohypertrophy, especially of the calf muscles but with a much later age of onset (35-45 years), and more benign course. X-linked inheritance. (05 Mar 2000) |
| Becker type tardive muscular dystrophy | Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal. Compare: Duchenne dystrophy. Synonym: Becker type tardive muscular dystrophy. (05 Mar 2000) |
| benign pseudohypertrophic muscular dystrophy | <neurology> An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles. (06 Aug 1998) |
| pelvofemoral muscular dystrophy | One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance. Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy. (05 Mar 2000) |