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January 1974

The Ullrich-Noonan Syndrome (Turner Phenotype)

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).

Am J Dis Child. 1974;127(1):48-55. doi:10.1001/archpedi.1974.02110200050007

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.