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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)
anterior facial vein <anatomy, vein> A continuation of the angular vein at the medial angle of the eye. It passes diagonally downward and outward, joining with the retromandibular vein below the border of the lower jaw before emptying into the internal jugular vein.
Synonym: anterior facial vein, vena facialis anterior, vena facialis.
(05 Mar 2000)
area of facial nerve <anatomy, nerve> The area in the fundus of the internal acoustic meatus superior to the transverse crest through which the facial nerve passes to enter the facial canal.
Synonym: area nervi facialis.
(05 Mar 2000)
atypical facial neuralgia Periodic pain in any region of the face, teeth, tongue, and occasionally in the occipital or shoulder area, which lasts several minutes to several days but has no trigger point and lacks the paroxysmal character of tic douloureux.
Synonym: atypical facial neuralgia.
(05 Mar 2000)
Broca's facial angle The angle formed by the intersection at the biauricular axis of lines drawn from the supraorbital point and the alveolar point.
Synonym: Broca's angles.
(05 Mar 2000)
buccal branches of facial nerve <anatomy, nerve> Motor branches of the facial nerve distributed to buccina or muscle and other muscles of facial expression below orbit and above chin.
Synonym: rami buccales nervi facialis.
(05 Mar 2000)
ganglion of facial nerve The sensory ganglion of the facial (7th cranial) nerve. The geniculate ganglion cells send central processes to the brainstem and peripheral processes to the taste buds in the anterior tongue, the soft palate, and the skin of the external auditory meatus and the mastoid process.
(12 Dec 1998)
velo-cardio-facial syndrome <syndrome> Also known as shprintzen syndrome, this more than is a congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is therefore called the velo-cardio-facial (vcf) syndrome. (the velum is the soft palate). Other less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. The cause is usually a microdeletion in chromosome band 22q11.2, just as in digeorge syndrome. Vcf and digeorge syndromes are different clinical expressions of essentially the same chromosome defect. Of essentially the same chromosome defect.
(12 Dec 1998)
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