Meckel-Gruber syndrome.

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

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

Article in English | IMSEAR | ID: sea-46153

ABSTRACT

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

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Retrognathia / Syndrome / Abnormalities, Multiple / Chromosomes, Human, Pair 17 / Humans / Male / Infant, Newborn / Cause of Death / Cleft Palate / Cardiomegaly Country/Region as subject: Asia Language: English Year: 2006 Type: Article

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