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

To evaluate the cause of short stature in children. Two children with suspected skeletal dysplasia and short stature were evaluated. 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. © 2021 Walter de Gruyter GmbH, Berlin/Boston.

Citation

Radha Rama Devi Akella. 3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients. Journal of pediatric endocrinology & metabolism : JPEM. 2022 Mar 28;35(3):399-403

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PMID: 34674409

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