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

de Silva, D; Suriyawansa, D; Mangalika, M; Samarasinghe, D

de Silva, D; Suriyawansa, D; Mangalika, M; Samarasinghe, D.

Ceylon Med J ; 2001 Mar; 46(1): 30

Article in English | IMSEAR | ID: sea-47917

ABSTRACT

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.

Subject(s)

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

Fulltext

XML

Search on Google

Full text: Available Index: IMSEAR (South-East Asia) Main subject: Autopsy / Syndrome / Abnormalities, Multiple / Female / Humans / Infant, Newborn / Pregnancy / Risk Factors / Oligohydramnios / Ultrasonography, Prenatal Type of study: Diagnostic study / Etiology study / Risk factors Language: English Journal: Ceylon Med J Year: 2001 Type: Article

Similar

MEDLINE

LILACS

LIS

Fulltext

XML

Search on Google