Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.

Abstract

Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.

• Authors: D de Silva, D Suriyawansa, M Mangalika, D Samarasinghe
• Journal: The Ceylon medical journal (Ceylon Med J) Vol. 46 Issue 1 Pg. 30 (Mar 2001) ISSN: 0009-0875 [Print] Sri Lanka
• PMID: 11570001 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Autopsy
• Consanguinity
• Encephalocele (complications, diagnosis, genetics)
• Fatal Outcome
• Female
• Fetal Death (etiology)
• Fetal Growth Retardation (etiology)
• Genetic Counseling
• Humans
• Infant, Newborn
• Oligohydramnios (etiology)
• Polycystic Kidney Diseases (complications, diagnosis, genetics)
• Polydactyly (complications, diagnosis, genetics)
• Pregnancy
• Risk Factors
• Syndrome
• Ultrasonography, Prenatal