| congenital malformation | Abnormal formation of a structure evident at birth. (12 Dec 1998) |
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| cystic adenomatoid malformation of lung, congenital | A developmental anomaly that usually becomes apparent in the neonatal period with progressive respiratory distress. This malformation is a focal pulmonary dysplasia characterised by a multicystic mass of terminal bronchiolar structures. Ccam is classified into 3 separate types (I, II, III) depending on cyst size. (12 Dec 1998) |
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| arnold-chiari malformation | <radiology> Chiari I herniation of medulla and cerebellar tonsils, 4th ventricle in normal position, Chiari II herniation of medulla, tonsils, vermis, 4th ventricle at foramen magnum, myelomeningocele, aqueductal stenosis most likely to be hydrocephalus, Chiari III further herniation, 4th ventricle below foramen magnum, encephalocele or myelomeningocele associated with: agenesis of corpus callosum, syrinx (12 Dec 1998) |
| arteriovenous malformation | <anatomy, embryology> A tangled collection of abnormal blood vessels where there is an abnormal communication between the arterial and venous systems. The afferents flow directly into the venous efferents without the usual resistance of an intervening capillary bed. They are mostly congenital. If large enough, they may produce a shunt of sufficient magnitude to raise the cardiac output. Common sites include; skin, liver, brain, brainstem and spinal cord, where they may cause headaches, seizures or bleeding (subarachnoid haemorrhage). See: arteriovenous fistula, cerebral arteriovenous malformations. Synonym: haemangioma (20 Jun 2000) |
| A-V malformation | <anatomy, embryology> A tangled collection of abnormal blood vessels where there is an abnormal communication between the arterial and venous systems. The afferents flow directly into the venous efferents without the usual resistance of an intervening capillary bed. They are mostly congenital. If large enough, they may produce a shunt of sufficient magnitude to raise the cardiac output. Common sites include; skin, liver, brain, brainstem and spinal cord, where they may cause headaches, seizures or bleeding (subarachnoid haemorrhage). See: arteriovenous fistula, cerebral arteriovenous malformations. Synonym: haemangioma (20 Jun 2000) |
| malformation | <embryology> A morphologic defect resulting from an intrinsically abnormal developmental process. Origin: L. Malus = evil, formatio = a forming (18 Nov 1997) |
| cerebellomedullary malformation syndrome | <radiology> Chiari I herniation of medulla and cerebellar tonsils, 4th ventricle in normal position, Chiari II herniation of medulla, tonsils, vermis, 4th ventricle at foramen magnum, myelomeningocele, aqueductal stenosis most likely to be hydrocephalus, Chiari III further herniation, 4th ventricle below foramen magnum, encephalocele or myelomeningocele associated with: agenesis of corpus callosum, syrinx (12 Dec 1998) |
| cystic adenomatoid malformation of lung | <radiology> Only true pulmonary cystic disease of newborn, three X-ray types: multicystic, walls of varying thickness, multicystic, one large dominant thin-walled cyst, solid, mediastinal shift common, cysts often contain foetal lung fluid, Treatment: surgery Cf: congenital lobar emphysema (12 Dec 1998) |
| adrenal hyperplasia, congenital | A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. (12 Dec 1998) |
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia, haemolytic, congenital | Haemolytic anaemia due to various intrinsic defects of the erythrocyte. (12 Dec 1998) |
| anaemia, haemolytic, congenital nonspherocytic | Any one of a group of congenital haemolytic anaemias in which there is no abnormal haemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. (12 Dec 1998) |
| bovine congenital ataxia | An autosomal recessive ataxia seen in several European breeds of cattle. (05 Mar 2000) |
| bullous congenital ichthyosiform erythroderma | Diffusely red, eroded skin at birth, with subsequent scaling, tending to improve in later life, characterised by generalised epidermolytic hyperkeratosis and autosomal dominant inheritance. See: epidermolytic hyperkeratosis. Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) |
| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |
| rubella syndrome, congenital | Transplacental infection of the foetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalised growth retardation. (12 Dec 1998) |