Punctate Tarsus with Deformed Foot – A Rare Presentation of Chondrodysplasia punctata
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Abstract
Chondrodysplasia punctata is a heterogeneous group of skeletal dysplasias characterized by punctate epiphyses. The spectrum of the disease ranges from incidental findings to severe disabilities, including skeletal deformities, respiratory insufficiency and multisystem complications increasing the risk of early mortality. Clinico-radiologically it presents as disproportionate dwarfism, joint contracture and punctate calcifications visible in the epiphyses. This entity is extremely rare and the diagnostic challenge is posed by clinical manifestations and image resemblance to various pathologies including warfarin embryopathy and other skeletal dysplasias characterized by epiphyseal stippling. At present, the literature highlights a considerable gap in awareness about this condition. Therefore, we are presenting a 15 months old male child with Chondrodysplasia punctata detected incidentally, who presented to our paediatric orthopaedic OPD with bilateral punctate tarsus with right deformed foot.
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