PEDIATRICS Vol. 44 No. 3 September 1969, pp. 358-364
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LOWE'S SYNDROME: A SEARCH FOR THE CARRIER STATE

Lewis B. Holmes M.D.1, Bernard L. McGowan M.D.1, and Mary L. Efron M.D.1

1 Children's Service, and the Joseph P. Kennedy, Jr., Memorial Laboratories, Neurology Service, Massachusetts General Hospital; the Ophthalmology Service, Massachusetts Eye and Ear infirmary; and the Departments of Pediatrics, Ophthalmology and Neurology, Harvard Medical School, Boston; and the Walter E. Fernald State School, Waverly, Massachusetts

An attempt to detect the female carriers of this X-linked disease has been carried out in three families, including two whose affected male infants were subjects of the original report of this syndrome. No lens opacities were found in two sets of parents. In the third family both parents had multiple small opacities. There was no difference in the urinary amino acid response of either the mothers or the fathers to an oral ornithine loading test.

It has been concluded that neither test is reliable in the detection of the female carrier of the oculo-cerebro-renal syndrome.

Submitted on February 3, 1969
Accepted on April 8, 1969




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G. E. Holinies and V. Tucker
Oculo-Cerebro-Renal Syndrome: A Four Generation Family Study and Case Reports of Two Living Children
Clinical Pediatrics, February 1, 1972; 11(2): 119 - 124.
[Abstract] [PDF]