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Dandy-Walker anomaly in Meckel-Gruber syndrome
P Cincinnati1, M E Neri, A Valentini
1Sez.ne di Pediatria, Ospedale E.De Santis, Genzano di Roma, Italy.
Clinical Dysmorphology
|January 29, 2000
Summary
Meckel-Gruber syndrome can present with Dandy-Walker malformation, a central nervous system anomaly. This finding highlights potential rhombencephalon development disturbances in affected fetuses.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neuropathology
Background:
- Meckel-Gruber syndrome is a rare autosomal recessive developmental disorder.
- It is characterized by a specific set of congenital anomalies, including occipital encephalocele, abdominal cyst, and postaxial polydactyly.
Observation:
- A fetus diagnosed with Meckel-Gruber syndrome exhibited a complex phenotype.
- Clinical features included macrocephaly, frontal bossing, saddle nose, micrognathia, abdominal distension, omphalocele, polydactyly, and clubfoot.
Findings:
- Autopsy revealed a large cyst in the posterior cranial fossa, indicative of Dandy-Walker anomaly.
- Associated findings included intestinal malrotation, cystic dysplastic kidneys, and hepatic portal fibrosis.
Implications:
- The co-occurrence of Dandy-Walker malformation in Meckel-Gruber syndrome suggests a disruption in rhombencephalon development.
- Dandy-Walker malformation should be considered among the central nervous system anomalies associated with Meckel-Gruber syndrome.
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