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A Review

Valiollah Abbassi, MD; Charles U. Lowe, MD; Philip L. Calcagno, MD

Am J Dis Child. 1968;115(2):145-168.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

THE OCULO-CEREBRO-RENAL syndrome is a congenital hereditary affectation limited to males. It is characterized by growth retardation, mental deficiency, hypotonia, mild or severe metabolic acidosis, generalized hyperaminoaciduria, proteinuria, rickets, and characteristic eye changes, the most prominent of which are bilateral congenital cataracts and glaucoma.

Since the original description of this syndrome by Lowe et al¹ in 1952 many other reports have appeared. Recently a disturbance in the metabolism of ornithin has been described in a patient affected with this syndrome.² The term oculocerebro-renal syndrome³ and Lowe's syndrome⁴ have both been used interchangeably, though the former is preferable. In some published reports a diversity of clinical and metabolic manifestation from the original description has been noted.⁵

The purpose of the present communication is to compile a comprehensive review of clinical and laboratory findings of the syndrome and to add certain as yet undocumented characteristics of the . . . [Full Text PDF of this Article]

Author Affiliations
Buffalo

From the Children's Hospital, Buffalo (Dr. Abbassi); Department of Pediatrics, University of Florida, Gainesville, Fla (Dr. Lowe); and the Georgetown Medical School, Washington, DC (Dr. Calcagno).

Footnotes
Received for publication Nov 1, 1967.

Submitted by the authors for the Mitchell I. Rubin Festschrift issue of the Journal.

Reprint requests to University of Florida, Department of Pediatrics, Gainesville, Fla 32601 (Dr. Lowe).

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