Mental retardation, spasticity, and transverse limb defects.
We report on a mentally retarded boy with spastic paraplegia and a transverse defect of the left foot who was born to consanguineous parents. This association of ectrodactyly, mental retardation, and spastic paraplegia was first reported by Jancar [1967].
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D013577:Syndrome