Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects.
We report on a child with mental retardation, spasticity, and distal transverse defects of the limbs born to healthy parents related as first cousin. This is the third child reported to be affected with the syndrome described by Jancar. We confirm the existence of the syndrome as a separate entity and raise possibility that it may be inherited as an autosomal recessive trait.
Zlotogora
J
J
Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
Glick
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D013577:Syndrome