Journal of Postgraduate Medicine
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Year : 1996  |  Volume : 42  |  Issue : 2  |  Page : 55-6  

Meckel-Gruber syndrome associated with short limbed dwarfism.

NN Malguria, SA Merchant, KV Kiran, SL Verghese 
 Department of Radiology, Lokmanya Tilak Municipal Medical College, Sion, Mumbai.

Correspondence Address:
N N Malguria
Department of Radiology, Lokmanya Tilak Municipal Medical College, Sion, Mumbai.


Antenatal detection of Meckel-Gruber Syndrome associated with short-limbed devarfism is described here. This association has not been previously reported.

How to cite this article:
Malguria N N, Merchant S A, Kiran K V, Verghese S L. Meckel-Gruber syndrome associated with short limbed dwarfism. J Postgrad Med 1996;42:55-6

How to cite this URL:
Malguria N N, Merchant S A, Kiran K V, Verghese S L. Meckel-Gruber syndrome associated with short limbed dwarfism. J Postgrad Med [serial online] 1996 [cited 2023 Oct 1 ];42:55-6
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  ::   IntroductionTop

MeckelGruber syndrome was first described by Meckel in 1822, later by Gruber and more recently by Optiz and Howe. The syndrome includes occipital encephalocele, polydactyly and renal abnormalities[1],[2],[3],[4],[5],[6]. We have recently diagnosed a case of MeckelGruber syndrome antenatally at 28 weeks of gestation. This was associated with short-limbed dwarfism, which hitherto has not been described.

  ::   Case reportTop

A 29 year old gravida 1, para 0, was referred for the first time during her pregnancy for a routine obstetric scan. Her gestational age by LMP was 28 weeks. The ultrasound study revealed a single fetus in breech presentation. The placenta was posteriorly placed, reaching upto the fundus. There was moderate to severe oligohydramnios. Fetal biometry revealed a 7.2 cm fetus, which corresponded to a gestational age of 28 weeks. The femur length was 2.4 cm, the difference from the expected value being more than 2 standard deviations (SD). The humerus length was 2.3 cm, the tibial length was also 2.3 cm. The length of the radius was 2.2 cm and the ulna was 2.1 cm. All the limb measurements were < 2 SD from the expected length at 28 weeks. Abdominal circumference was above the 95th percentile for 28 weeks of gestation.

Examination of the fetal skull showed a defect in the occipital bone posteriorly with brain matter covered by meninges herniating through it [Figure:1], There was severe dilatation of the ventricular system, but the cerebral and cerebellar anatomy was not well visualised. Examination of the fetal abdomen revealed bilateral large hyperechoic kidneys, indicative of infantile polycystic kidneys. The polydactyly was not appreciated due to the oligohydramnios [Figure:2A] & [Figure:2B]. With the above features, an antenatal diagnosis of MeckelGruber syndrome associated with symmetrical short-limbed dwarfism was done.

The mother chose to carry the pregnancy to term. She delivered vaginally at 36 week. A 1800g neonate was born with an occipital encephalocele and polydactyly confirming the diagnosis of MeckelGruber syndrome All the limbs of the neonate were very short which was consistent with the antenatal diagnosis of a symmetrical short limbed dwarfism. However, the child died within 40 minutes of birth due to cardiorespiratory failure. The parents of the child refused an autopsy.

  ::   DiscussionTop

MeckelGruber syndrome, which is inherited in an autosomal recessive manner, is a lethal condition. It comprises of a classical triad of occipital encephalocele, infantile polycystic kidneys and postaxial polydactyly. Other inconstant features include facial clefts, microcephaly, cerebellar and cerebral hypoplasia, hydrocephalous, sloping forehead, congenital heart disease and pulmonary hypoplasia[1],[2],[3]. Genital anomalies are hypoplastic penis, cryptorchidism. Mullerianduct remnants and epididymal cysts in males. Septate vagina and hypoplastic or bicornuate uterus may, be associated in females. There has been a single case report of MeckelGruber syndrome associated with Rokintasky - Kuster - Hauser syndrome[1],[2],[3],[4],[5],[6].

To our knowledge, an association of Meckel-Gruber syndrome with symmetrical short limb dwarfism has not been reported previously in literature. The association is probably incidental[1],[2],[3],[4],[5],[6].

Careful ultrasound evaluation has to be done in every obstetric case, especially in the second trimester. If a diagnosis of a lethal anomaly like Meckel-Gruber syndrome is reached, counselling may be done. Knowledge of this syndrome and appropriate care during scanning would enable the sonologist to make an early antenatal diagnosis of the condition.


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3Nyberg DA, Hallesy D, Mahoney BS. MeckelGruber syndrome: importance of prenatal diagnosis. J Ultrasound Med 1990; 9:691696.
4Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome Am J Med Genet 1981; 6:694696.
5Friedrich U, Hansen KB, Hange M. Prenatal diagnosis of Polycystic kidneys and encephalocele (Meckel Syndrome) Clin Genet 1979; 15:278286
6Karjalainen O, Ania P, Seppaelae M. Prenatal diagnosis of Meckel syndrome. Obstet Gynecol 1981; 138158.

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