Meckel-Gruber syndrome is a severe ciliopathy first described in 1822. The worldwide incidence ranges from 1:1300 in Gujarati Indians to 1:140, 000 in England. Twelve genetic mutations are associated with Meckel-Gruber syndrome (designated MKS1 through MKS12). In all cases, this disorder has shown autosomal recessive inheritance. The diagnosis of Meckel-Gruber syndrome is typically made by prenatal ultrasound examination in the first or second trimester. Meckel-Gruber syndrome is considered in an individual with a normal karyotype who has at least two of the three classic features: occipital encephalocele; large, polycystic kidneys; and postaxial polydactyly. Most affected individuals die in utero or mothers elect for termination of pregnancy. The postnatal mortality is 100% for individuals who survive to birth, with the longest survivor dying at 28 months. The major causes of death are pulmonary hypoplasia from oligohydramnios and liver disease.
|Title of host publication||Obstetric Imaging|
|Subtitle of host publication||Fetal Diagnosis and Care, 2nd Edition|
|State||Published - Jan 1 2017|
- Gruber syndrome
- Meckel syndrome
- Meckel-gruber syndrome