A casuistic report on the Gruber or Meckel syndrome
β Scribed by P. Altmann; P. Wagenbichler; A. Schaller
- Book ID
- 104758551
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 348 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971-1977), in reference to a probably autosomal recessive inheritance of this malformation.
π SIMILAR VOLUMES
## Communicated by Iain McIntosh Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 wer
T w o Japanese sibs with the Meckel syndrome are reported. Both babies showed the classical triad of this condition: occipital encephalocele, cystic kidneys, and postaxial polydactyly of all four limbs. The diagnostic criteria and differential diagnosis were reviewed.