PSEUDOACHONDROPLASIA - REHABILITATION CHALLENGES AND PREVENTION OFMISDIAGNOSIS

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.