Phenotypic variability in Meckel-Gruber syndrome.
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.
Farag
T I
TI
Kuwait Medical Genetics Centre, Paediatric Department.
Usha
R
R
Uma
R
R
Mady
S A
SA
al-Nagdy
K
K
el-Badramany
M H
MH
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013577:Syndrome; D014429:Twins, Dizygotic / Q000235:genetics