eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Meckel-Gruber Syndrome: Follow-up

Author: Parul Bhagwati Jayakar, MD, FACMG, Director of Neurogenetics/Metabolic Program, Director of Cytogenetics Laboratory, Consultant in Clinical Genetics, Division of Genetics and Metabolism, Miami Children's Hospital; Assistant Professor, Genetics Residency Program Director, University of Miami, Leonard M Miller School of Medicine
Coauthor(s): Michail Spiliopoulos, MD, Fellow, Department of Medical Genetics, Jackson Memorial Hospital, University of Miami, Leonard M Miller School of Medicine; Anuj Jayakar, Georgetown University School of Medicine
Contributor Information and Disclosures

Updated: Jan 11, 2010

Follow-up

Complications

  • Pulmonary hypoplasia
  • Renal failure
  • Liver failure

Prognosis

  • The mortality rate is 100%.
  • Most die before or right after delivery, but those who survive longer might have less severe abnormalities.
  • Autopsy provides valuable information that aids in diagnosis and genetic counseling for future pregnancies.

Patient Education

  • Provide genetic counseling for future pregnancies.

Miscellaneous

Medicolegal Pitfalls

  • Failure to offer or provide genetic counseling for future pregnancies
  • Failure to offer first trimester ultrasonography if the patient at risk presents early in pregnancy
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.



More on Meckel-Gruber Syndrome

Overview: Meckel-Gruber Syndrome
Differential Diagnoses & Workup: Meckel-Gruber Syndrome
Treatment & Medication: Meckel-Gruber Syndrome
Follow-up: Meckel-Gruber Syndrome
References
Further Reading
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References

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Keywords

Meckel-Gruber syndrome, MKS, occipital encephalocele, large polycystic kidneys, postaxial polydactyly, oral clefting, genital anomalies, CNS malformations, liver fibrosis, pulmonary hypoplasia, oligohydramnios, dysencephalia splanchnocystica, treatment, symptoms

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Contributor Information and Disclosures

Author

Parul Bhagwati Jayakar, MD, FACMG, Director of Neurogenetics/Metabolic Program, Director of Cytogenetics Laboratory, Consultant in Clinical Genetics, Division of Genetics and Metabolism, Miami Children's Hospital; Assistant Professor, Genetics Residency Program Director, University of Miami, Leonard M Miller School of Medicine
Parul Bhagwati Jayakar, MD, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

Michail Spiliopoulos, MD, Fellow, Department of Medical Genetics, Jackson Memorial Hospital, University of Miami, Leonard M Miller School of Medicine
Michail Spiliopoulos, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists
Disclosure: Nothing to disclose.

Anuj Jayakar, Georgetown University School of Medicine
Disclosure: Nothing to disclose.

Medical Editor

Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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