Progesterone 发表于 2025-3-28 15:05:46

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同位素 发表于 2025-3-28 19:12:57

Ataxia-Telangiectasia (Louis-Bar Syndrome)cally manifest in the first decade of life as progressive cerebellar ataxia due to degeneration of . cells, as well as conjunctival telangiectasia, recurrent sinopulmonary infections, weakened immunity (IgA and IgG2 deficiencies), and a proclivity toward lymphoid-type cancers (leukemia and lymphoma)

dura-mater 发表于 2025-3-29 01:48:08

Hypomelanosis of Ito (Incontinentia Pigmenti Achromians)of .. The sporadic-occurring hypomelanosis of Ito belongs to a group of neurodermatoses with mosaic phenotypes. The disorder has an incidence of 1/3000–10,000 live births with an approximate ratio of 2 females to 1 male. Multiple organ systems may be involved including the brain, musculoskeletal and

舰旗 发表于 2025-3-29 06:04:55

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cognizant 发表于 2025-3-29 07:20:03

Klippel-Trénaunay Syndrome (Klippel-Trénaunay-Weber Syndrome)longs to the PIK3CA-related overgrowth spectrum. KTS is observed in 1 out of 30,000 births (overall incidence: 2–5/100,000) and has no sex predilection. Clinically, KTS is characterized by the triad of cutaneous capillary malformation, soft tissue, and bony hypertrophy of the extremity. It generally

expeditious 发表于 2025-3-29 11:57:18

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Assemble 发表于 2025-3-29 19:15:39

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frivolous 发表于 2025-3-29 23:09:19

Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)nderestimated average incidence rate of 1–1.5 cases per 10,000 people. The disease has a broad ethnic and geographic distribution, and there is no gender predilection. It is recognized by the tetrad of recurrent epistaxis, telangiectasia, arteriovenous malformations (AVMs) in the viscera, and famili

BIPED 发表于 2025-3-30 02:29:05

Cowden Disease, Lhermitte-Duclos Disease, and Bannayan-Riley-Ruvalcaba Syndromephosphatase and tensin homolog . gene. These include . syndrome, . syndrome, adult . disease, and autism spectrum disorders associated with macrocephaly. Clinically, . disease is characterized by mucocutaneous facial papules, gingival papillomas, keratoses of the palms and soles, and increased risks

报复 发表于 2025-3-30 05:44:04

Spinal Arteriovenous Metameric Syndrome (Cutaneomeningospinal Angiomatosis or Cobb Syndrome)lf from other vascular malformations of the spine by having a cutaneous lesion, such as port-wine stain, in the same metameric distribution. The extent of the deficit depends on the size and location of the haemorrhage or venous congestion. Surgical decompression or endovascular embolization is usua
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