Examined were 55 children with adenosine deaminase enzyme deficiency and combined immunodeficiency disease, characterized by severe infections in early life. (CL)

Studied were three unrelated infants with distal renal tubular acidosis (a condition characterized by an inability to acidify the urine to minimal pH levels resulting in the loss of bicarbonates). (DB)

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

A 15-year-old male suffering from a heart defect, intestinal problems, and generalized fatigue was shown to have the immunologic deficiency characteristic of intestinal lymphangiectasia. (DB)

Reported was the occurrence of an intense grey-brown discoloration of the skin, serum, and urine, and anemia in a premature infant when phototherapy was used to reduce hyperbilirubinemia. (CB)