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Edward J. Volpintesta, MD

Am J Dis Child. 1974;128(2):244-246.

Abstract
Copper deficiency has been shown to be characteristic of kinky hair syndrome, and it is postulated to be responsible for the clinicopathological features of this sex-linked, recessive, neurodegenerative disorder. The syndrome includes seizures, mental retardation, abnormal hair, skeletal deformities, abnormally tortuous arteries, hypothermia, and early death. A new case corroborates the prior descriptions. In addition, an abnormality of pigmentation that, to my knowledge, has not been described previously is seen in a female sibling.

Author Affiliations
Stamford, Conn

From Stamford (Conn) Hospital. Dr. Volpintesta is now with Danbury (Conn) Hospital.

Footnotes
Received for publication July 19, 1973; accepted Jan 23, 1974.

Reprint requests to 46 Cleveland St, Danbury, CT 06810.

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