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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic 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. [2][6][7] Most people have two sex ...
Individuals with Turner syndrome may have short stature, dysmorphic features, gonadal dysgenesis, and delayed puberty. [5] Other signs and symptoms associated with HH consist of intellectual disability or learning difficulties and delayed puberty including amenorrhea and absent breast and pubic hair development. [5]
Grey Turner's sign refers to bruising of the flanks, the part of the body between the last rib and the top of the hip. The bruising appears as a blue discoloration, [ 1 ] and is a sign of retroperitoneal hemorrhage, or bleeding behind the peritoneum, which is a lining of the abdominal cavity. Grey Turner's sign takes 24–48 hours to develop ...
Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination). [4] It is also known as brachial plexitis, and results in ...
Hypogonadism means diminished functional activity of the gonads —the testicles or the ovaries —that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms ...
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1]
Physical therapy, Surgery (scoliosis) [3] Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2. [4] UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen. [4]
It is frequently found in girls who have Turner syndrome. [8] Symptoms may be absent with mild narrowings (coarctation). When present, they include breathing difficulties, poor appetite or trouble feeding, and failure to thrive. Later on, children may develop symptoms related to problems with blood flow and an enlarged heart.
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