| testes | Plural of testis. Origin: L. (05 Mar 2000) |
|---|---|
| syndrome, thrombocytopenia-absent radius | See Syndrome, TAR. (12 Dec 1998) |
| thrombocytopenia-absent radius syndrome | <syndrome> Tar stands for thrombocytopenia (low blood platelets) and aplasia (absence) of the radius (the long bone on the thumb-side of the forearm), features characterizing this syndrome. There is phocomelia (flipper-limb) with the thumbs always present. The fibula (the smaller bone in the lower leg) is often absent. The risk of bleeding from too few platelets is high in early infancy but lessens with age. The condition is inherited in an autosomal recessive trait with one gene (on a non-sex chromosome) coming from each parent to the tar child. Alternative names include thrombocytopenia-absent radius syndrome, radial aplasia-thrombocytopenia syndrome, and tetraphocomelia-thrombocytopenia syndrome. (12 Dec 1998) |
| absent | 1. Being away from a place; withdrawn from a place; not present. "Expecting absent friends." 2. Not existing; lacking; as, the part was rudimental or absent. 3. Inattentive to what is passing; absent-minded; preoccupied; as, an absent air. "What is commonly called an absent man is commonly either a very weak or a very affected man." (Chesterfield) Synonym: Absent, Abstracted. These words both imply a want of attention to surrounding objects. We speak of a man as absent when his thoughts wander unconsciously from present scenes or topics of discourse; we speak of him as abstracted when his mind (usually for a brief period) is drawn off from present things by some weighty matter for reflection. Absence of mind is usually the result of loose habits of thought; abstraction commonly arises either from engrossing interests and cares, or from unfortunate habits of association. Origin: F, fr. Absens, absentis, p. Pr. Of abesse to be away from; ab + esse to be. Cf. Sooth. Source: Websters Dictionary (01 Mar 1998) |
| absent distal clavicle | <radiology> Cleidocranial dysostosis, rheumatoid arthritis, hyperparathyroidism (12 Dec 1998) |
| absent nasal septum | <radiology> Cocaine, Wegener's (midline lethal granuloma), surgery, trauma, syphilis, sarcoid (12 Dec 1998) |
| absent state | The saemiconscious state associated with an epileptic attack. Synonym: absent state. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |
| Achard-Thiers syndrome | <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria. (05 Mar 2000) |
| Achenbach syndrome | <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms. (05 Mar 2000) |
| achoo syndrome | <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. Inheritance: autosomal dominant. (05 Aug 1998) |