Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects
D de Silva1, D Suriyawansa, M Mangalika
1Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama.
The Ceylon Medical Journal
|September 26, 2001
Insights
Meckel Gruber syndrome (MGS) is a rare genetic disorder affecting infants. Early recognition by healthcare providers is crucial for genetic counseling and understanding the 25% recurrence risk in families.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Meckel Gruber syndrome (MGS) is an autosomal recessive developmental disorder.
- Key features include posterior encephalocoele, multicystic kidneys, and post-axial polydactyly.
Observation:
- This report details a consanguineous family experiencing MGS across three infants.
- The observation highlights the manifestation of MGS in a familial context.
Findings:
- The study confirms the characteristic features of MGS in affected infants.
- Genetic inheritance patterns consistent with autosomal recessive transmission were observed.
Implications:
- Obstetricians and pediatricians must be aware of MGS for accurate diagnosis and parental counseling.
- Understanding the 25% recurrence risk is vital for families with a history of MGS.
Abstract:
Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.
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