Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia
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Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia
Abstract
Achondroplasia is a metaphyseal dysplasia, mediated by FGFR3 gene mutation that results in abnormalities in cartilaginous bone growth which manifests in short limbs and rhizomelic disproportion of varying degrees of severity. Sufferers, such as those that have been presented here, complain of unabated limited range of motion and various other associated medical symptoms. The disorder is inherited as autosomal dominant and de novo mutations arise rather frequently in the general population. This text explores five similar and undiagnosed cases, whose external phenotype and associated medical symptoms are evidence of the classical achondroplasia, with description of a few unusual reported symptoms such as genetic bilateral cataract, and foot deformity. The alarming frequency of cases warrants greater attention by medical practitioners and researchers, and general awareness.
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Tohura Tahsin1, Nazifa Zabeen1, Nishat Salsabil1, Sumaiya Rahman1, Ruksana Begum1, Raidah Fairuze Niti, Jarin Tasnim, Mohammad Jakir Hosen (2020), Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia; IJB, V16, N3, March, P371-375
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