A syndrome of primary copper deficiency in a 6-month-old premature baby is described. Features which can be ascribed to lack of copper, include (1) a sideroblastic anemia resistant to other therapy, with vacuolation of erythroid and myeloid bone marrow cells, and iron deposition in the vacuoles and in some mitochondria; (2) neutropenia, especially segmentopenia, which was common and prominent; (3) long-bone changes on radiological examination, particularly osteoporosis with blurring and cupping of the metaphyses; (4) depigmentation of skin and hair, with distended blood vessels due to changes in the elastin of the vessel walls; and (5) central nervous system abnormalities including hypotonia, psychomotor retardation, and difficulties with sight. Besides this small premature infant, who had received a relatively copper-deficient milk diet for at least three months, a second case has been seen in a 2,100-gm premature infant, after three months of intravenous alimenation necessitated by neonatal bowel surgery. Treatment with oral copper, 1 to 3 mg/day, dramatically cured both patients. It is recommended that 100 to 500µg/day of copper be added to the diet of small premature infants until they are receiving other foods beside milk, and to prolonged intravenous alimentation beginning in the newborn period.

A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.

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