A RARE CASE OF HEREDITARY MULTIPLE EXOSTOSES
DOI:
https://doi.org/10.22159/ajpcr.2022.v15i9.44978Keywords:
Hereditary multiple exostoses, Deformity, inherited, Autosomal dominantAbstract
Background: A rare genetic condition, hereditary multiple exostoses (HME), follows the autosomal dominant pattern of inheritance. It is evident by multiple bony elevations on the appendicular skeleton by the age of 2 years.
Case Report: Here, we present the 42-years-old patient known case of CKD presenting with uncontrolled hypertension and breathlessness; however, incidentally, it was noted that there is bilateral swelling in the knee and further investigated for X-ray and blood parameters. On assessing the similar pattern in family members, it was noted such swelling over the shoulder in the daughter and swelling in the wrist joint in the younger brother.
Conclusion: Hereditary multiple osteochondromas are a hereditary ailment that should be studied. Despite tremendous advances in recent years, the intricacy and unresolved difficulties associated with HME remain a challenge for academics and physicians.
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