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Report of Three Brothers

Wulfred Berman, MD; Robert H. A. Haslam, MD; Bruce W. Konigsmark, MD; Arnold J. Capute, MD; Claude J. Migeon, MD

Arch Neurol. 1973;29(4):258-261.

Abstract
A familial disorder characterized by progressive ataxia, hearing loss, mental retardation and signs of both upper and lower motor neuron disease began in infancy in three male sibs. This syndrome differs from the Richards-Rundle syndrome and is unique because of the absence of hypogonadism, aminoaciduria, and low urinary ketosteroid levels. This constellation of features represents a previously unrecognized syndrome, which is probably genetic in origin and may be transmitted by an autosomal recessive mode.

Author Affiliations
Baltimore; Philadelphia; Baltimore

From the John F. Kennedy Institute (Drs. Berman, Haslam, and Capute); departments of pediatrics (Drs. Berman, Haslam, Capute, and Migeon) and neurology (Dr. Haslam), Pediatric Endocrine Clinic (Dr. Migeon), the Johns Hopkins School of Medicine, Baltimore; and Temple University Health Sciences Center, Philadelphia (Dr. Konigsmark).

Footnotes
Accepted for publication May 31, 1973.

Read in part before the Fifth Conference on Clinical Delineation of Birth Defects, Baltimore, June 16, 1972.

Reprint requests to the John F. Kennedy Institute, 707 N Broadway, Baltimore 21205 (Dr. Haslam).

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