Search | Global Index Medicus

Ramachandran, U; Malla, T; Joshi, K S.

Article in English | IMSEAR | ID: sea-46153

ABSTRACT

Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects.

Subject(s)

Abnormalities, Multiple/epidemiology , Cardiomegaly/genetics , Cause of Death , Chromosomes, Human, Pair 17/genetics , Cleft Palate/genetics , Cryptorchidism/genetics , Encephalocele/epidemiology , Humans , Infant, Newborn , Male , Meningocele/epidemiology , Microcephaly/genetics , Micrognathism/genetics , Nepal/epidemiology , Polycystic Kidney Diseases/epidemiology , Polydactyly/epidemiology , Rare Diseases/epidemiology , Retrognathia/genetics , Syndrome

ABSTRACT

Subject(s)

SEND TO:

SELECTION OF CITATIONS

SEARCH DETAIL