| werner syndrome | <radiology> Cataract in connection with scleroderma, rare; unknown aetiology, M = F, premature aging, short stature, thin, atrophic extremities, generalised osteoporosis, accelerated atherosclerosis (calcification of arteries, heart valves), beaked nose, multiple infections (including osteomyelitis), scleroderma-like skin changes, increased incidence of malignancy: GI tract, lung, kidney, ovary, breast (12 Dec 1998) |
|---|
| Werner's syndrome | <syndrome> A disorder consisting of scleroderma-like skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance. (05 Mar 2000) |
|---|---|
| Werner, F | <person> Early 20th century German chemist. See: Werner's test. (05 Mar 2000) |
| werner-his disease | Named for the German physician heinrich werner (not the werner of werner's syndrome) and the swiss physician wilhelm his, jr. (who described the bundle of his in the heart). See fever, wolhynia. (12 Dec 1998) |
| Werner, Otto | <person> German physician, *1879. See: Werner's syndrome. (05 Mar 2000) |
| Werner's test | A thyroid function test used to diagnose difficult cases of hyperthyroidism, now largely replaced by the thyrotropin-releasing hormone stimulation test; triiodothyronine is administered for a week to 10 days, and a reduction of its uptake by the thyroid gland to less than half of the initial uptake is a normal response. Synonym: Werner's test. (05 Mar 2000) |
| Hagedorn, Werner | <person> German surgeon, 1831-1894. See: Hagedorn needle. (05 Mar 2000) |
| Schultz, Werner | <person> German internist, 1878-1947. See: Schultz-Charlton phenomenon, Schultz-Charlton reaction, Schultz-Dale reaction. (05 Mar 2000) |
| Siemens, Hermann Werner | <person> German dermatologist, 1891-1969. See: Christ-Siemens-Touraine syndrome. (05 Mar 2000) |
| disease, his-werner | Named for the Swiss physician Wilhelm His, Jr. (who also described the bundle of His in the heart) and the German physician Heinrich Werner (who did not describe Werner's syndrome). See Disease, His. (12 Dec 1998) |
| disease, werner-his | Named for the German physician Heinrich Werner (who did not describe Werner's syndrome) and the Swiss physician Wilhelm His, Jr. (who did describe the bundle of His in the heart), this is a louse-borne disease first recognised in the trenches of World War I (and so called trench fever), again a major problem in the military in World War II, seen endemically in Mexico, N. Africa, E, Europe, and elsewhere. The cause, Rochalimaea quintana, is an unusual rickettsia that multiplies in the gut of the body louse. Transmission to people can occur by rubbing infected louse feces into abraded (scuffed) skin or conjunctiva (whites of the eyes). Onset of symptoms is sudden, with high fever, headache, back and leg pain and a fleeting rash. Recovery takes a month or more. Relapses are common. Also called Wolhynia fever, shin bone fever, quintan fever, five-day fever, Meuse fever, His-Werner disease. (12 Dec 1998) |
| Koerte, Werner | <person> German surgeon, 1853-1937. See: Koerte-Ballance operation. (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) |