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James J. Nora, MD; Audrey H. Nora, MD; Anil K. Sinha, PhD; Richard D. Spangler, MD; Herbert A. Lubs, MD

Am J Dis Child. 1974;127(1):48-55.

Abstract
Recent genetic, cytogenetic, and clinical findings of the Ullrich-Noonan syndrome have been reviewed in the context of a personal series of 81 patients, the majority of whom were found in 23 families. Direct transmission of all familial cases strongly supports the proposed autosomal dominant mode of inheritance. Cytogenetic evaluation, including utilization of Q and G banding techniques, has failed to disclose a chromosomal anomaly. Diagnostic criteria, frequency of anomalies, and disabilities are presented together with cardiovascular abnormalities and recurrence risks.

Author Affiliations
Denver; Houston; Denver

From the departments of pediatrics (Drs. Nora, Nora, and Lubs) and medicine (Dr. Spangler), University of Colorado Medical Center, Denver; and the Department of Pediatrics, Baylor College of Medicine, Houston (Dr. Sinha).

Footnotes
Received for publication June 11, 1973; accepted Aug 13.

Reprint requests to Department of Pediatrics, University of Colorado Medical Center, Denver 80220 (Dr. J. Nora).

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