Meckel-Gruber syndrome: A rare and lethal anomaly
Abdelmoneim E M Kheir1, Abdelmutalab Imam2, Ilham M Omer1
1(1) Department of Neonatology , Soba university hospital.
Sudanese Journal of Paediatrics
|August 6, 2016
Summary
Meckel-Gruber syndrome, a lethal genetic disorder, presents with severe birth defects. This case highlights a female infant with the typical triad, emphasizing the importance of early antenatal diagnosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Meckel-Gruber syndrome (MGS) is a rare, lethal autosomal recessive developmental disorder.
- It is defined by a specific triad of congenital anomalies: occipital encephalocele, postaxial polydactyly, and bilateral renal dysplasia.
Observation:
- This report details a case of a female neonate presenting with the classic MGS triad.
- The infant exhibited occipital encephalocele, postaxial polydactyly, and bilateral dysplastic cystic kidneys.
Findings:
- The diagnosis of Meckel-Gruber syndrome was established antenatally via ultrasound, identifying at least two major features.
- The described infant presented with all three cardinal features of MGS.
- The infant survived only briefly after birth, underscoring the lethal nature of the condition.
Implications:
- Early and accurate antenatal diagnosis of MGS is crucial for parental counseling and management planning.
- Understanding the genetic basis and phenotypic spectrum of MGS aids in distinguishing it from other ciliopathies.
- This case contributes to the literature on MGS, reinforcing its typical presentation and severe prognosis.
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