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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus valgus (known as the carrying angle) is acceptable and occurs in the general population.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
Grey Turner's sign: George Grey Turner: surgery: retroperitoneal hemorrhage: flank ecchymosis Griffith's sign: Alexander Hill Griffith, Scottish Ophthalmologist, Manchester (1858–1937) endocrinology: Graves' ophthalmopathy (needed) lid lag of the lower eyelid on upward eye movement Grisel's syndrome: Pierre Grisel: rheumatology
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
Muir–Torre syndrome: Sebaceous carcinoma: Muir–Torre syndrome: Syringofibroadenoma: Clouston syndrome Schöpf–Schulz–Passarge syndrome: Syringoma: Down syndrome Nicolau–Balus syndrome Brooke–Spiegler syndrome [1] Trichodiscoma: Birt–Hogg–Dubé syndrome: Hidrocystoma: Schöpf–Schulz–Passarge syndrome: Pilomatricoma: Turner ...
Other examination findings may include widened pulse pressures and bounding pulses. A machinery murmur is also known as a Gibson murmur. [20] Systolic murmur loudest below the left scapula Classic for a coarctation of the aorta. Coarctation of the aorta is narrowing of the aorta. This can occur in Turner's Syndrome, (gonadal dysgenesis).