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  • Title: 3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
    Author: Akella RRD.
    Journal: J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):399-403. PubMed ID: 34674409.
    Abstract:
    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 a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.
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