MGS is a malformation complex, also known as dysencephalia splanchnocystica (Entezami 2002).
Meckel- Gruber- syndromeQ61.7
DefinitionThis section has been translated automatically.
Occurrence/EpidemiologyThis section has been translated automatically.
The malformation occurs in ethnically very different degrees (Entezami 2002):
- Belgium 1: 3,000
- Gujarat- Indians: 1: 1.300
- Massachusetts 1: 13.250
- Finland 1: 8,500
- Ashkenazi Jews 1: 50.000
- Great Britain 1: 140,000
EtiopathogenesisThis section has been translated automatically.
Sporadically occurring or autosomal recessive inheritance on gene loci of chromosomes 17q23, 11q13 and 8q24 (Korinthenberg 2009).
Clinical featuresThis section has been translated automatically.
MGS is associated with CNS anomalies, polydactyly (Beetz 2013) cleft jaw (Keller 2010) and cystic kidney dysplasia (Entezami 2002).
DiagnosticsThis section has been translated automatically.
The diagnosis can usually be made prenatally by sonography due to numerous malformations such as:
- Oligo- or anhydramnios due to impaired renal function
- encephalocele in up to 80% of cases
- microcephaly or anencephaly
- cerebellar hypoplasia
- cystic kidney dysplasia in 95% of cases
- facial dysmorphia
- cardiac vitias
- anomalies of the genitals (Entezami 2002)
Progression/forecastThis section has been translated automatically.
Approximately 1 / 3 of those affected are stillborn, and the remaining infants die within the first 3 h postpartum (Entezami 2002).