1. Dr Irfan A. Kazi MD[RD]
Radiologist,
Sonosquare Ultrasound Clinic, Hyderabad

2. Introduction
Meckel Gruber syndrome is a rare autosomal recessive
condition with reported incidence of 2-7 per 1 million
births
It is characterised by the triad of :-
Renal cysic dysplasia [95-100%]
Encephalocele [60-80%]
Post axial polydactyly [55-75%]
At least 2 of these features when seen in a fetus
with normal karyotype are diagnostic of this
syndrome

3. Clinical presentation
A 23 yr old primigravida [with consanguineous
marriage] presented to our clinic for routine antenatal
checkup at 15 wks of gestation.
USG done on this patient revealed enlarged kidneys
showing numerous cysts & occipital encephalocele
There was no polydactyly.
No other abnormalities were noted as per the
gestational age of the fetus
Liquor was adequate for gestational age.
The fetal karyotyping done did not reveal any
chromosomal anomaly
Thus a diagnosis of Meckel Gruber Syndrome was
made

4. Enlarged kidneys are seen which are
showing numerous small cysts..
The AC is also
consequently
increased

5. Occipital encephalocele with herniation
of brain is seen

6. CNS abnormalities:
Microcephaly,
Dandy walker malformation
Agenesis of corpus callosum
Holoprosencephaly
ventriculomegaly
This triad may be associated with :-
Facial malformations:
Cleft lip/palate
Micrognathia
Microphthalmia
Ear malformations
Sloping forehead
Cardiac anomalies:
Septal defects
Coarctation of aorta
Other anomalies:
Small bell shaped chest
Hepatic fibrosis
Cryptorchidism
Ambiguous genitalia

7. Trisomy 13
Renal anomalies: in 50%
Cystic dysplasia
Kidneys may be large, but
typically smaller than in meckel
gruber syndrome
CNS:
Holoprosencephaly in 40%
Encephalocele- less common
Extremities:
Post axial polydactyly in 75%
Other facial & cardiac anomalies may
be seen
Autosomal recessive
polycystic kidney disease
• Does not have associated
encephalocele/polydactyly
Multicystic dysplastic
kidney
•If it is bilateral
-does not have associated
encephalocele/polydactyly
Encephalocele
•Isolated or with other syndromes
-kidneys & extremities are normal

8. Prognosis & workup Take home message !
It is a lethal condition
Oligohydramnios leads to
pulmonary hypoplasia
Most are still born or die
within few hours
Karyotyping is done to
exclude trisomy 13
Renal cystic dysplasia
Encephalocele
Post axial polydactyly
At least 2 features of this triad,
when seen in a fetus with normal
karyotype are diagnostic of Meckel
Gruber syndrome
USG is an immensely useful tool for
identifying this lethal condition
Genetic counselling should be done
as there is 25% chance of recurrence