Alder's anomaly |
Coarse azurophilic granulation of leukocytes, especially granulocytes, which may be associated with gargoylism and Morquio's disease.
(05 Mar 2000) |
angle of anomaly |
<ophthalmology> An obsolete term for the degree of deviation from parallelism of the visual axes of the eyes.
(05 Mar 2000) |
Aristotle's anomaly |
When a small object is held between the first and second fingers crossed in such a way that it touches or presses upon skin surfaces which ordinarily are not pressed upon simultaneously by a single object, it is perceived falsely as two.
(05 Mar 2000) |
May-Hegglin anomaly |
A disorder in which neutrophils and eosinophils contain basophilic structures known as Dohle or Amato bodies and in which there is faulty maturation of platelets, with thrombocytopenia; autosomal dominant inheritance.
Synonym: May-Hegglin anomaly.
(05 Mar 2000) |
pelger-huet anomaly |
An inherited defect interfering with normal nuclear lobulation of neutrophils and eosinophils. The nuclei appear rodlike, spherical, or dumbbell-shaped and their structure is coarse and lumpy.
(12 Dec 1998) |
Pelger-Huet nuclear anomaly |
Congenital inhibition of lobulation in the nuclei of neutrophilic leukocytes; most cells present band or bilobulate appearance, and only an occasional cell is trilobed; it is not associated with disease, but may be confused with leukocyte "shift to left"; autosomal dominant inheritance.
(05 Mar 2000) |
Chediak-Steinbrinck-Higashi anomaly |
<syndrome> An autosomal recessive disorder characterised by the presence of giant lysosomal vesicles in phagocytes and in consequence poor bactericidal function due to deficient secretion of myeloperoxidase by lysosomes. There is some perturbation of microtubule dynamics.
There are abnormalities of granulation and nuclear structure of all types of leukocytes with malformation of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies, often with hepatosplenomegaly, lymphadenopathy, anaemia, thrombocytopenia, roentgenologic changes of bones, lungs and heart, skin and psychomotor abnormalities, and susceptibility to infection.
The condition usually results in death in childhood, before the age of 10.
Reported from humans, albino Hereford cattle, mink, beige mice and killer whale.
Compare: chronic granulomatous disease.
Inheritance: autosomal recessive.
Synonym: Beguez Cesar disease, Chediak-Higashi disease, Chediak-Steinbrinck-Higashi anomaly.
(21 May 1997) |
Rieger's anomaly |
Mesodermal dysgenesis of cornea and iris, producing pupillary anomalies, posterior embryotoxon, and secondary glaucoma.
Synonym: Rieger's anomaly.
(05 Mar 2000) |
Peters' anomaly |
<syndrome> A congenital disorder originating from faulty separation of embryonic structures; it results in bilateral central corneal opacities, with an anterior ring attachment of the iridic pupillary border and anterior polar cataracts; associated with short-limbed dwarfism; autosomal dominant inheritance.
See: iridocorneal endothelial syndrome.
Synonym: Peters' anomaly.
(05 Mar 2000) |
morning glory anomaly |
<ophthalmology, syndrome> A congenital anomaly of the optic disk in which there is a funnel-shaped hypoplastic optic nerve, which has a dot of white tissue at the centre, surrounded by an elevated anulus of chorioretinal pigment.
The retinal vessels seen are multiple narrow bands at the edge of the disk.
(22 Sep 2002) |
Hegglin's anomaly |
A disorder in which neutrophils and eosinophils contain basophilic structures known as Dohle or Amato bodies and in which there is faulty maturation of platelets, with thrombocytopenia; autosomal dominant inheritance.
Synonym: May-Hegglin anomaly.
(05 Mar 2000) |
Shone's anomaly |
Coarctation of the aorta, subaortic stenosis, and stenosing ring of the left atrium found in association with a parachute mitral valve.
(05 Mar 2000) |
developmental anomaly |
An anomaly established during intrauterine life; a congenital anomaly.
(05 Mar 2000) |
ebstein anomaly |
<radiology> Tricuspid valve: abnormal formation and insertion, usually tricuspid insufficiency, right atrial enlargement (if severe, box-like heart), decreased pulmonary vascularity, cyanosis, severe at birth, mild in later childhood, angio: to-and-fro motion of contrast between RA and atrialised RV
(12 Dec 1998) |
ebstein's anomaly |
Congenital downward displacement of the tricuspid valve with the septal and posterior leaflets being attached to the wall of the right ventricle.
(12 Dec 1998) |