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Year : 2006  |  Volume : 16  |  Issue : 3  |  Page : 408-409
Meckel Final

Smt. Scl Muni. Hospital, Smt.Nhl Muni.Medical College, Department Of Radiology, Saraspur, Ahemedabad, India

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How to cite this article:
Thakkar GN. Meckel Final. Indian J Radiol Imaging 2006;16:408-9

How to cite this URL:
Thakkar GN. Meckel Final. Indian J Radiol Imaging [serial online] 2006 [cited 2020 Aug 15];16:408-9. Available from:

We would like to report a very rare lethal phenomenon a case of MECKEL SYNDROME.

A 24 year married female came to antenatal clinic for routine check up for first time with no complication.

With reference to LMP gestational age was 6 months 10 days.

   Ante natal work up Top

Sonography was done. First abnormality detected was severe oligohydroamnios with AFI- 2-3 cms. Fetal maturity was about 28 wks.A bone gap was detected in the occipital region with protruding brain matter with covering of meninges; suggesting occipital meningoencephalocele. Targeted fetal anomaly scan was attempted, though it was difficult to scan limbs due to oligohydramnios.It revealed an empty lt. renal fossa; which was probably occupied by enlarged adrenal gland.Club foot on both sides was also detected.The pregnancy was terminated.The aborted fetus showed a large occipital cephalocele, anomalous genitalia, club foot with bowing of legs.


Again sonography was done to check the renal fossae. No definite structure of a kidney was found. Mildly enlarged adrenal gland was found. There was a reniform structure seen in the abdomen;without typical sonomorphology; probably suggesting dysplastic kidney. Babygram was done. AP and LAT view taken which showed hemivertebrae at the lumbar region and club feet with flexion deformity of lower limbs. Soft tissue opacity of a meningoencephalocele noted behind occiput.

MECKEL SYNDROME is a rare and lethal syndrome characterized by occipital cephalocele, postaxial polydactyly and dysplastic cystic kidneys.It can be associated with many other conditions and fibrotic lesion of the liver is one of the most common associations. Incidence at birth varies from 0.07 to 0.7 : 10,000 and 5% of all neural tube defects. A recurrence risk of 25% is involved with autosomal recessive inheritance. Genetic locus is on chromosome 17, long arm , region 2, bands 1-4.

First sonographic finding in most cases is oligohydroamnios, due to the renal dysfunction and it develops early in second trimester, when kidney replace extracellular diffusion as the main source of amniotic fluid. Occipital encephalocele is present in 60% to 80%. Postaxial polydactyly is present in 55% to75%.Finding at least two of three features of the classical triad, in the presence of normal karyotype, makes the diagnosis. Constellation of possible anomalies associated with this syndrome is extensive.

In some situations, such a wide phenotypic variation makes recognition of disease more difficult. Most infants are stillborn or die hours or days after birth. If diagnosis is made before viability, termination can be offered.[3]

   References Top

1.Diagonostic Ultrasound, Carol M Rumack, 3rd edition ; The Fetal Head and Brain;37; 1247.  Back to cited text no. 1    
2.Essentials of Caffey's Pediatric X-Ray Diagnosis;The Brain and Spinal Cord;3;139  Back to cited text no. 2    
3.Ultrasonogarphy on Obstetrics and Gynecology, P W Callen, 4th edition; Fetal Syndromes; 4; 93.  Back to cited text no. 3    

Correspondence Address:
Gurudatt N Thakkar
Smt. Scl Muni. Hospital, Smt.Nhl Muni.Medical College, Department Of Radiology, Saraspur, Ahemedabad
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-3026.29033

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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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