Achondrogenesis langer-saldino type
An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter.
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X-rays are commonly used in clinical practice to diagnose fractures. Characteristics of the fracture such as the type, deformity & soft tissue / joint involvement are used to guide management. Learn & update your basic radiological approach for “Bone Fractures” & interpretation knowledge & patient care approach with this post.
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F.60yrs. LBA with swelling of legs. 3months.
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Check out the answer for Quick Brains quiz.
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