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Article

3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Akella Radha Rama Devi

Abstract excerpt

OBJECTIVE: To evaluate the cause of short stature in children. CASE PRESENTATION: Two children with suspected skeletal dysplasia and short stature were evaluated. CONCLUSIONS: The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is...

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Identifiers

PMID: 34674409
DOI: 10.1515/jpem-2021-0412

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