Meckel-Gruber Syndrome fetal ultrasound by Dr.Amira Shawky

Meckel Gruber syndrome Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of malformation of central nervous system, particularly occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. ..The central nervous system anomalies may range from the classic occipital exencephalocele to prosencephalic dysgenesis, rhombic roof dysgenesis, microcephaly, cerebellar hypoplasia, cranial rachischisis, hydrocephalus, polymicrogyria and Dandy–Walker malformation ..Renal disorder is noted in 95-100% of patients, occipital encephalocele in 60-80%, and postaxial polydactyly in 60-80% …..Facial anomaly, ambiguous genitalia, cardiac septal defect and gastrointestinal anomalies like omphalocele also occur in varying combinations …Meckel-Gruber syndrome is a rare and lethal poly malformative syndrome characterized by clinical polymorphism. The classic triad is not always constant. There is a risk of recurrence of 25%. Nowadays prenatal ultrasonographic signs still play a key role in the clinical diagnosis of MGS Genetic counseling and accurate isolation of the gene responsible for Meckel syndrome is a necessary step in antenatal diagnosis.With 100% fetal or neonatal mortality and a high (25%) recurrence rate in pregnancy, a precise early diagnosis of MGS at 11–14 weeks by transvaginal ultrasound is vital for obstetric management. Ultrasound positively correlates with fetal autopsy findings. Parents should undergo genetic counseling for future pregnancies.Abnormal fetal renal function is a frequent cause of oligohydramnios or anhydramnios, a common complication of an MKS pregnancy …Potter’s sequence is frequent (pulmonary hypoplasia, growth restriction, club feet, and contractures) with a distinctive facies (comprising slanting forehead, flattened nose, and low-set ears) , and is secondary to oligohydramnios or anhydramnios during pregnancy.