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单词 Absent patella
释义

Absent patella

英语百科

Nail–patella syndrome

Nail–patella syndrome is inherited in an autosomal dominant pattern.
AP radiograph showing a hypoplastic patella in NPS
AP radiograph of the right iliac crest showing a bony exostosis or posterior iliac horn, which is pathognomonic of NPS

Nail–patella syndrome (NPS) (also known as "HOOD syndrome") is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins. Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome.

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更新时间:2025/6/18 4:29:34