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Case Reports
. 1990 Sep;38(3):176-9.
doi: 10.1111/j.1399-0004.1990.tb03568.x.

Phenotypic variability in Meckel-Gruber syndrome

T I Farag  1 , R Usha, R Uma, S A Mady, K al-Nagdy, M H el-Badramany
Affiliations
Case Reports

Phenotypic variability in Meckel-Gruber syndrome

T I Farag et al. Clin Genet. 1990 Sep.

Abstract

Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.

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