Article

A 10-Year Follow-up of Schmid Metaphyseal Chondrodysplasia with Partial Growth Hormone Deficiency

2026-08-10

Abstract excerpt

<title>Abstract</title> <p>Background Schmid metaphyseal chondrodysplasia (SMCD) is a rare autosomal dominant skeletal dysplasia caused by mutations in the COL10A1 gene, characterized by metaphyseal dysplasia and short stature. The co-occurrence of SMCD with growth hormone deficiency (GHD) is extremely rare. Case presentation : We report a 14-year-old boy with growth retardation and skeletal deformities. Geneti...

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Literature Corpus work: 0351b611-b236-524b-9bc0-f62ff7f95424
DOI: 10.21203/rs.3.rs-10287619/v1

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