An Interesting Case of Meckel-Gruber Syndrome.
Artigo
em Inglês
| IMSEAR
| ID: sea-182619
ABSTRACT
Meckel-Gruber syndrome, also known as ‘Dysencephalia splanchnocystica’, is a rare lethal autosomal recessive disorder consisting of central nervous system malformation- mainly posterior encephalocele (80%), multicystic kidneys (95%) and polydactyly (75%). Besides the classic triad of neural tube defects, polydactyly and cystic dysplasia of the kidneys, other abnormalities can occur in association with the syndrome, which may be detected sonographically include micrognathia, cardiac abnormalities, syndactyly, clinodactyly and clubbed foot. We report a case of a 26-year-old woman with previous LSCS referred from a private practitioner with abnormal ultrasonographic findings. She was diagnosed to have Meckel-Gruber syndrome. Woman and her husband were counseled regarding this lethal condition incompatible with life and after proper consent and information, pregnancy was terminated.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Ano de publicação:
2013
Tipo de documento:
Artigo
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