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A casuistic report on the Gruber or Meckel syndrome

✍ 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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✦ 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.


πŸ“œ SIMILAR VOLUMES


Mutations of the CEP290 gene encoding a
✍ Valeska Frank; Anneke I. den Hollander; Nadina Ortiz BrΓΌchle; Marijke N. Zonneve πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 328 KB

## 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

The Meckel syndrome: Report of two Japan
✍ Sugiura, Yasuo; Suzuki, Yoshiro; Kobayashi, Masanori πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

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.