Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…

Chromosomal abnormalities, some appearing in a stepwise clonal evoluation, were found in five Down's syndrome patients (35 weeks to 12 years old), four with acute leukemia and one with abnormal regulation of leukopoiesis. (Author/SBH)

Six 4- to 37-year-old patients with tuberosis sclerosis (a chronic condition characterized by siezures, intercranial calcification, a reddish-yellow sebaceous glandular mass on the face, and frequent crises in early years), did not exhibit an elevation of the (alpha + beta) globulin fraction in their serum. (Author/MC)

The sera of 53 patients with Down's syndrome and their families were tested for hepatitis-associated antigen. (Author)

The cases of two mentally retarded adult siblings with the classical features of Albright's osteodystrophy (a disease with characteristics such as short stature and abnormal sexual development) were reported. (Author/DB)

A 22-month-old child with argininosuccinic aciduria presenting a 1 year with hypotonia, developmental delay, and seizures was reported. (Author)