RESUMO
Introduction: Neglected bilateral clubfoot clubhand deformity is a mesomelic type of dysplasia that is characterized by disproportionate shortness of the middle segment of all limbs and is a form of short-limb dwarfism. Affected individuals are clinically of normal stature with particularly short mesomelic segments with nearly symmetric limb abnormalities. Case Report: The patient was a 20-year-old male Indian who came to outpatient department for cosmetic purpose. Upper limb abnormalities include short forearm, and elbow joints which are broad and deformed with limited flexion-extension range of motion and decreased pronosupination of the forearms. The hands are normal in appearance. The foot is also affected and deformed. The fibulae are malformed and long in relation to the tibiae. Both bones, tibia, and fibula are dysplastic. The atypical foot deformity seen in this patient is characterized by a severe equinovarus component. He is able to do his activities of daily living and can do activities such as gripping, holding a pen/cup, opening a door, and writing on paper comfortably. He is able to walk normally without any support. This patient has normal stature, normal systemic examination, and normal chromosomes. Conclusion: The neglected bilateral clubfoot clubhand deformity a type of mesomelic dysplasia was the most likely diagnosis in our patient. Disorders involving Nievergelt syndrome and mesomelic dwarfism were considered but none were likely possibilities. Our patient had the malformed fibulae and tibiae, and the severe equinovarus deformity of the feet. There were triangular shaped ulnae which were deficient distally, and the radii were bowed. Unlike Nievergelt syndrome, our patient did not have a severe deformity of hands and fingers. He is functionally sound and able to do his activities of daily living and can do activities such as gripping, holding a pen/cup, opening a door, and writing on paper comfortably. He is able to walk normally without any support. These features have not been previously described in literature leading to our diagnosis of neglected bilateral clubfoot clubhand deformity.
