PSEUDOACHONDROPLASIA - REHABILITATION CHALLENGES AND PREVENTION OF MISDIAGNOSIS
Abstract
Patients with skeletal dysplasias face unique challenges because of their physical stature, psychosocial issues and medical complications. Rehabilitation can help them by improving their physical and social independence. Moreover, pseudoachondroplasia has often been mistaken for classical achondroplasia which is the most common type of short limbed dwarfism. Accuracy of diagnosis is important for genetic counseling and patient management. . In this report, we present the case of a 37 year old lady who was earlier diagnosed to have achondroplasia. She presented to us with multiple somatic complaints and difficulty in her activities of daily living. While admitted under us, based on the clinical and radiological findings, a diagnosis of pseudoachondroplasia was made. This report describes the features that differentiate the two entities and discusses the rehabilitation challenges and management of these patients. Keyword :Achondroplasia, Pseudoachondroplasia, Rehabilitation, Skeletal dysplasia ehabilitation of persons with skeletal dysplasias helps them by improving social and physical independence. Misbeliefs that such people have limited abilities need to be erased in order to help them maximize their independence. Apart from this, there have been instances where few cases have been misdiagnosed as Achondroplasia instead of Pseudochondroplasia. We present the case of a 37 year old lady who had been diagnosed to have achondroplasia earlier and presented to us with multiple somatic complaints. On detailed evaluation, she was diagnosed to have Pseudoachondroplasia. This report highlights the differences between the two entities and to the best of our knowledge is the first report which addresses the rehabilitation challenges of these patients.
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