Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsCarpometacarpal Joint Dislocations as a Rare Cause of Hand Pain.
Carpometacarpal joint dislocations represent not more than 1% of all hand injuries due to stable joint structures and high-energy trauma mechanism. Unfortunately, there are many missed cases suffering from ongoing pain and loss of function because of difficulty in diagnosis. Here we present a case of a healthy 42-year male who presented to the emergency department with hand pain after a punch injury. ⋯ In the case of carpometacarpal joint fracture or dislocations, early diagnosis and reduction are the most critical steps to avoid severe morbidity, and it is only possible with careful evaluation of physical and radiological findings. In conclusion, as seen in our case, emergency physicians should remain vigilant in the diagnosis and treatment of rare traumatic injuries. Key Words: Carpometacarpal joints, Dislocation, Hand injury, Pain.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsA Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.
Waardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. ⋯ No previous report of this variant was found in the literature and we determined the variant according to the guide published in 2015 as ''likely pathogenic''. We think that the clinical and genetic characterisation of the current family will contribute to knowledge for a better understanding of the genetic background of the Afghan patients with WS. Key Words: Waardenburg syndrome, Congenital auditory-pigmentary syndrome, PAX3 gene.