Abstract

Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a lethal neonatal form of spondylometaphyseal dysplasias that is reported rarely. The case of a female infant demonstrating a clinical phenotype consistent with a diagnosis of SSMD was presented. She died with acute evidence of myocardial injury. Conclusion: In SSMD, certain organ systems including the central nervous, cardiac, and skeletal systems, are clearly involved. Although the exact cause of the uniform fatality remains unclear, cardiac involvement seems to play a role in the rapid and unexpected death.

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