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The Noonan Syndrome: A Family Study
- MERLE R. BOLTON, M.D.;
- DAVID M. PUGH, M.D., F.A.C.P.;
- LEONE F. MATTIOLI, M.D.;
- MARVIN I. DUNN, M.D., F.A.C.P.; and
- R. NEIL SCHIMKE, M.D., F.A.C.P.
Abstract
A family has been studied in which a man and four of his male adolescent children are affected with the Noonan syndrome. Four of the five family members have pulmonic stenosis confirmed by catheterization. Endocrine studies of the pituitary-gonadal axis in our patients suggest that the Noonan syndrome in the male can show normal gonadal function, primary abnormalities of the gonads, alteration in hypothalamic-hypophyseal function, or even some combination of these possibilities. The direct male-to-male transmission of the Noonan syndrome in this family strongly suggests that the condition is inherited in an autosomaldominant way. Hyperelastic skin and microscopic abnormalities of biopsied blood vessels suggest a basic defect in connective tissue in this disorder.
Article and Author Information
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▸From the Departments of Internal Medicine and Pediatrics, Kansas University Medical Center, Kansas City, Kansas.
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Dr. Robert Reis, Chief of the Section of Cardiothoracic Surgery at the University of Kansas Medical Center, performed the cardiac operations on the reported patients.
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Grant support: Kaw Valley Heart Association, Kansas City, Kansas.
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▸Requests for reprints should be addressed to R. Neil Schimke, M.D., Associate Professor of Medicine and Pediatrics, Kansas University Medical Center, 39th and Rainbow Blvds., Kansas City, KS 66103.
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- Received October 9, 1973.
- Accepted November 30, 1973.
