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CASE REPORT Table of Contents   
Year : 2001  |  Volume : 11  |  Issue : 4  |  Page : 199-201
Antenatal Ultrasound diagnosis of Meckel-Gruber syndrome

Department of Ultrasound Imaging, K G Hospital, Arts College Road, Coimbatore 641018, Tamil Nadu, India

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Keywords: Beckwith-Wiedmann syndrome, adrenal gland, cysts

How to cite this article:
Dahiya N, Vijay S, Prabhakar S, Subhramaniam S, Dahiya N. Antenatal Ultrasound diagnosis of Meckel-Gruber syndrome. Indian J Radiol Imaging 2001;11:199-201

How to cite this URL:
Dahiya N, Vijay S, Prabhakar S, Subhramaniam S, Dahiya N. Antenatal Ultrasound diagnosis of Meckel-Gruber syndrome. Indian J Radiol Imaging [serial online] 2001 [cited 2020 Feb 22];11:199-201. Available from:

   Introduction Top

Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination can establish the correct diagnosis by identifying at least two of the major features described.

   Material and Methods Top

A twenty-five-year-old woman with 16 weeks amenorrhea was referred for a second trimester ultrasonogram to detect fetal anomalies. There was history of first-degree consanguinity. The patient had two previous second trimester abortions. Records were not available and the patient stated that both the abortions were due to "abnormal kidneys".

Ultrasonography was done using GE logiq 500 PRO equipment, with a 4MHz Curvilinear transducer. The scan revealed bilateral enlarged hyperechoic kidneys [Figure - 1],[Figure - 2], occipital encephalocele [Figure - 3], six digits in all four limbs [Figure - 4] and bilateral clubfeet. Though there was no oligohydramnios the fetal urinary bladder was not visualised both in the initial scan and in all repeat scans done over a period of two days.

The pregnancy was terminated two days later. Post-mortem examination of the fetus revealed a large abdomen [Figure - 5], a small head with a boggy swelling over the occipital region , bilateral clubfeet and six digits in all the four limbs [Figure - 6]. Autopsy revealed bilateral large cystic dysplastic kidneys [Figure - 7] and occipital cephalocele [Figure - 8]. Urinary bladder and both ureters were identified.

   Discussion Top

Meckel -Gruber syndrome is also known as dysencephalia splanchnocystica: Meckel syndrome (used in English literature) and Gruber syndrome (used in European literature). The incidence is not precisely known, but this is a very rare condition. It is an autosomal recessive disorder with a recurrence risk of twenty-five percent. The locus for Meckel syndrome is on chromosome 17, long arm, region 2, and bands 1-4. Phenotype variability and cases that did not have confirmed linkage to 17q suggests that there is some degree of locus heterogeneity.

   Diagnosis Top

The first sonographic finding in most cases is oligohydramnios, due to renal dysfunction, and it develops early in the second trimester. The concurrence of oligohydramnios and bilateral severe renal anomalies should initiate a search for other anomalies indicative of the Meckel-Gruber syndrome. Some cases of Meckel syndrome have normal amniotic fluid and the presence of normal fluid does not exclude the diagnosis. Sometimes absence of the bladder can also be recognized. An early normal sonogram in a family at risk for recurrence, does not exclude Meckel syndrome. A follow-up scan at 20 weeks of gestation is recommended.

Cystic dysplastic kidneys are a constant anomaly in Meckel syndrome and therefore must be present in addition to at least two minor defects to make the diagnosis. The reported incidence of renal disorder in this syndrome varies from 95%to 100%. The kidneys have initially microscopic cysts that destroy the parenchyma and enlarge the organ up to 10 or 20 times.

Occipital cephalocele is present in 60% to 80% of fetuses. Maternal serum or amniotic fluid fetoprotein level may be normal, as a membrane may cover the cephalocele. Post-axial polydactyly is present in 55% to 75%. Other limb anomalies such a bowing and shortening may also be present.

Finding at least two of the three features of the classical triad, in the presence of normal karyotype makes the diagnosis.

   Differential diagnosis Top

The differential diagnosis will depend on the type of the anomalies. Due to several sonographic similarities between these conditions, Trisomy 13 must be excluded by karyotype. Another possible differential diagnosis is autosomal dominant polycystic kidney disease. The constellation of possible anomalies associated with this syndrome is extensive [Table - 1]. In some situations, such a wide phenotypic variation makes the recognition of the disease more difficult.

   Prognosis Top

Meckel syndrome is a lethal disorder. Most infants are stillborn or die hours or days after birth. Occasionally infants survive a few months with poor quality of life.

   Management Top

A karyotype study should be obtained when Meckel syndrome is suspected, to exclude chromosomal disorders. If the diagnosis is made before viability, termination can be offered. When the family decides to continue the pregnancy, or if the diagnosis is made after viability, the standard obstetrical management is not altered.

Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks. Parents should be counseled of the likely recurrence of Meckel-Gruber syndrome[8].

   References Top

1.Jones KL. Meckel-Gruber syndrome. Smith's Recognizable patterns of human malformation, 5th ed. Philadelphia: W.B. Saunders, 1997.   Back to cited text no. 1    
2.Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynecol Obstet 1992; 39:327-332.  Back to cited text no. 2    
3.Jaffe R. Meckel-Gruber syndrome. Fetus 1991; 1:1-3.   Back to cited text no. 3    
4.Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Meckel-Gruber Syndrome: importance of prenatal diagnosis. J Ultrasound Med 1990; 9:691-696.  Back to cited text no. 4    
5.Farag TI, Usha R, Mady SA, AI-Nagdy K, EI-Badramany M. Phenotypic variation in Meckel-Gruber syndrome. Clin Genet 1990; 38:176-179.   Back to cited text no. 5    
6.Buyse ML (Ed.). Birth defects encyclopedia. Blackwell Scientific, 1990.   Back to cited text no. 6    
7.Salonen R., Norio R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984; 18:671-689.   Back to cited text no. 7    
8.Altmann P, Wagenbichler P, Schaller AA. Casuistic report on the Gruber or Meckel syndrome. Hum Genet 1977; 38:357-362  Back to cited text no. 8    

Correspondence Address:
N Dahiya
Department of Ultrasound Imaging, K G Hospital, Arts College Road, Coimbatore 641018, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]


[Table - 1]

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