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3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients
1Rainbow Children Hospital, Road No 2, Banjara Hills, Hyderabad, India.
Insights
3-M syndrome, a rare primordial growth disorder causing severe short stature and skeletal anomalies, was investigated in two children. Genetic analysis identified specific variants, aiding family counseling and prenatal diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Short stature in children can stem from various genetic and endocrine factors.
- Skeletal dysplasias represent a significant category of growth disorders.
- Accurate diagnosis is crucial for appropriate management and genetic counseling.
Observation:
- Two pediatric patients presented with short stature and suspected skeletal dysplasia.
- Clinical features included severe postnatal growth restriction and characteristic skeletal anomalies.
- Prominent fleshy heels were noted in affected individuals.
Findings:
- Whole-exome sequencing identified the genetic cause in both patients.
- One patient had a compound heterozygous variant, the other a homozygous missense variant.
- These findings confirm the genetic heterogeneity and phenotypic similarity of 3-M syndrome.
Implications:
- Genetic diagnosis of 3-M syndrome enables precise family counseling.
- Prenatal diagnosis is feasible, allowing for informed reproductive decisions.
- Understanding the genetic basis of primordial growth disorders advances pediatric care.
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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