Congenital Hypothyroidism Induced Spondyloepiphyseal Dysplasia- A Case Report
Narendra Chaudhary, Sheetal Sharda
Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India
Abstract

Spondyloepiphyseal dysplasia as a sign of untreated congenital hypothyroidism is rare nowadays due to implementation of neonatal screening and increased awareness of pediatricians to detect hypothyroidism earlier. But neonatal screening is not routinely done in the developing countries. We report here a case of spondyloepiphyseal dysplasia due to untreated congenital hypothyroidism, which was not screened for hypothyroidism during neonatal life. Because of similar radiological findings, this patient was confused with the congenital spondyloepiphyseal dysplasia. Radiological findings of both entities are discussed. Being a treatable cause, hypothyroidism should always be considered as differential diagnosis of spondyloepiphyseal dysplasia, especially if the patient belongs to the developing world.
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