eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
Meckel-Gruber Syndrome: Follow-up
Updated: May 15, 2007
Follow-up
Complications
- Pulmonary hypoplasia
- Renal failure
Prognosis
- The mortality rate is 100%.
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
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 |
| « Previous Page |
References
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Blankenberg TA, Ruebner BH, Ellis WG. Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Gen. 1987;3:395-410. [Medline].
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Liu SS, Cheong ML, She BQ, Tsai MS. First-trimester ultrasound diagnosis of Meckel-Gruber syndrome. Acta Obstet Gynecol Scand. 2006;85(6):757-9. [Medline].
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Morgan NV, Gissen P, Sharif SM. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Hum Genet. Oct 2002;111(4-5):456-61. [Medline].
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Paavola P, Salonen R, Weissenbach J. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. Oct 1995;11(2):213-5. [Medline].
Roume J, Genin E, Cormier-Daire V. A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet. Oct 1998;63(4):1095-101. [Medline].
Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. Aug 1984;18(4):671-89. [Medline].
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Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Am J Obstet Gynecol. Feb 1997;176(2):316-9. [Medline].
Yapar EG, Ekici E, Dogan M. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clin Dysmorphol. Oct 1996;5(4):357-62. [Medline].
Further Reading
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, Gruber syndrome, Gruber's syndrome, trisomy 13, Meckel syndrome type 1, MKS1, MES
Follow-up: Meckel-Gruber Syndrome