Article
Phenotypic variability in Meckel-Gruber syndrome.
Clinical genetics - 1 Sept 1990
Farag T I, Usha R, Uma R, Mady S A, al-Nagdy K, el-Badramany M H
Abstract excerpt
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.
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Congenital Abnormalities
- Consanguinity
- Diseases in Twins
- Encephalocele
- Female
- Fingers
- Genes, Recessive
- Genetic Counseling
- Humans
- Infant, Newborn