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Abstract:
Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome.
Insights
This study reports on five patients from four families with clinical and radiological features of 3-M syndrome. The findings contribute to understanding this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Radiology
Background:
- 3-M syndrome is a rare genetic disorder characterized by primordial dwarfism, distinctive facial features, and skeletal abnormalities.
- Understanding the genetic basis and phenotypic spectrum of 3-M syndrome is crucial for diagnosis and management.
Observation:
- This report details five patients from four unrelated families exhibiting the characteristic clinical and radiological manifestations of 3-M syndrome.
- The cohort includes two male siblings, highlighting familial recurrence patterns.
Findings:
- The patients presented with a consistent set of clinical features associated with 3-M syndrome.
- Radiological imaging revealed specific skeletal abnormalities, aiding in the diagnosis.
Implications:
- These cases expand the documented cohort of 3-M syndrome, providing valuable data for genetic and clinical research.
- Further research into the genetic underpinnings and long-term outcomes of 3-M syndrome is warranted.