Skip to main content
SpringerLink
Log in

Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation

  • Case Report
  • Published:
Journal of Ultrasound Aims and scope Submit manuscript

Abstract

Meckel–Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.

Sommario

La sindrome di Meckel–Gruber (MGS) è una rara anomalia autosomatica recessiva caratterizzata dalla triade classica composta da encefalo occipitale, reni policistici e polidattilìa postassiale. Descriviamo un caso di MGS classica, diagnosticata con ecografia ed analisi genetiche, successivamente confermata dal test autoptico del feto.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

References

  1. Panduranga C, Kangle R, Badami R, Patil PV (2012) Meckel–Gruber syndrome: report of two cases. J Neurosci Rural Pract 3:56–59

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Chen CP (2007) Meckel syndrome: genetics, perinatal findings and differential diagnosis. Taiwan J Obstet Gynecol 46:9–14

    Article  PubMed  Google Scholar 

  3. Hakverdi S, Güzelmansur I, Sayar H, Arif G, Hakverdi AU, Toprakl S (2010) Meckel–Gruber syndrome: a report of three cases. Perinat J 18:59–63

    Google Scholar 

  4. Myageri A, Grampurohit V, Rao R (2013) Meckel Gruber syndrome: report of two cases with review of literature. J Fam Med Prim Care 2:106–108

    Article  Google Scholar 

  5. Gazioglu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C, Ilikkan B, Erginel A, Cenani A (1998) Meckel–Gruber syndrome. Childs Nerv Syst 14:142–145

    Article  CAS  PubMed  Google Scholar 

  6. Jones KL (2006) Meckel–Gruber syndrome. In: Jones KL (ed) Smith’s recognizable patterns of human malformation. Elsevier Saunders, Philadelphia, pp 18–19, 114–115, 198, 204, 292–293

  7. Bolineni C, Nagamuthu EA, Neelala N (2013) Fetal autopsy of Meckel Gruber syndrome—a case report. Fetal Pediatr Pathol 32:387–393

    Article  PubMed  Google Scholar 

  8. Roy J, Pal M (2013) Meckel Gruber syndrome. J Clin Diagn Res 7:2102–2103

    PubMed  PubMed Central  Google Scholar 

  9. Seller MJ (1978) Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet 15:462–465

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Young ID, Rickett AB, Clarke M (1985) High incidence of Meckel’s syndrome in Gujarati Indians. J Med Genet 22:301–304

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Meckel JF (1822) Beschreibung zweier, durch sehr ahnliche bildungsabweichungen entstelter geschwister. Dtsch Arch Physiol 7:99–172

    Google Scholar 

  12. Gruber BG (1934) Beiträge zur frage “gekoppelter” missbildungen. (Acrocephalo-Syndactylie und Dysencephalia splanchnocystica). Beitr Path Anat 93:459–476

    Google Scholar 

  13. Opitz JM, Howe J (1969) The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). In: Bergsma D (ed) Malformation syndromes. The National Foundation/Williams & Wilkins, New York, pp 167–179

    Google Scholar 

  14. Ahdab-Barmada M, Claassen D (1990) A distinctive triad of malformations of the central nervous system in the Meckel–Gruber syndrome. J Neuropathol Exp Neurol 49:610–620

    Article  CAS  PubMed  Google Scholar 

  15. Alexiev BA, Lin X, Sun CC, Brenner DS (2006) Meckel–Gruber syndrome pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 130:1236–1238

    PubMed  Google Scholar 

  16. Sergi C, Adam S, Kahl P, Otto HF (2000) Study of the malformation of the ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 3:568–583

    Article  CAS  PubMed  Google Scholar 

  17. Salonen R (1984) The Meckel syndrome: clinico-pathological findings in 67 patients. Am J Med Genet 18:671–689

    Article  CAS  PubMed  Google Scholar 

  18. Chao A, Wong AM, Hsueh C, Chang YL, Wang TH (2005) Integration of imaging and pathological studies in Meckel–Gruber syndrome. Prenat Diagn 25:267–268

    Article  PubMed  Google Scholar 

  19. Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH (1997) Diagnosis of Meckel Gruber syndrome at eleven to fourteen weeks’ gestation. Am J Obstet Gynecol 176:316–319

    Article  CAS  PubMed  Google Scholar 

  20. Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C (2007) Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel–Gruber syndrome. Hum Mutat 28:638–639

    Article  PubMed  Google Scholar 

  21. Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF (2006) Meckel–Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol 27:296–300

    Article  CAS  PubMed  Google Scholar 

  22. Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D (1990) Meckel–Gruber syndrome. Importance of prenatal diagnosis. J Ultrasound Med 9:691–696

    Article  CAS  PubMed  Google Scholar 

  23. Pachì A, Giancotti A, Torcia F, de Prosperi V, Maggi E (1989) Meckel–Gruber syndrome: ultrasonographic diagnosis at 13 weeks’ gestational age in an at-risk case. Prenat Diagn 9:187–190

    Article  PubMed  Google Scholar 

  24. Braithwaite JM, Economides DL (1995) First-trimester diagnosis of Meckel–Gruber syndrome by transabdominal sonography in a low-risk case. Prenat Diagn 15:1168–1170

    Article  CAS  PubMed  Google Scholar 

  25. Vernekar JA, Mishra GK, Pinto RG, Bhandari M, Mishra M (1991) Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature). Australas Radiol 35:186–188

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Gastroenterology, Hepatology and Nutrition, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA

    Shruti Khurana

  2. Center for Tuberculosis Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Vikram Saini

  3. University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Vibhor Wadhwa

  4. Department of Obstetrics and Gynecology, Maulana Azad Medical College, New Delhi, India

    Harveen Kaur

Authors
  1. Shruti Khurana
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Vikram Saini
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Vibhor Wadhwa
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Harveen Kaur
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Shruti Khurana.

Ethics declarations

Conflict of interest

There are no conflicts of interest.

Ethical approval

This study involves postmortem autopsy of the fetal human specimen. No animals were involved in the study.

Informed consent

An informed consent was obtained from the patient for the termination of pregnancy, fetal autopsy and histopathological examination of the specimens.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Khurana, S., Saini, V., Wadhwa, V. et al. Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation. J Ultrasound 20, 167–170 (2017). https://doi.org/10.1007/s40477-016-0231-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40477-016-0231-4

Keywords

Search

Navigation