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Facial features of patients with molybdenum cofactor deficiency [patient 1, top left 4 ; patient 2, top right 117 ; and patient 3, bottom left 83 ] and.

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Presentation on theme: "Facial features of patients with molybdenum cofactor deficiency [patient 1, top left 4 ; patient 2, top right 117 ; and patient 3, bottom left 83 ] and."— Presentation transcript:

1 Facial features of patients with molybdenum cofactor deficiency [patient 1, top left 4 ; patient 2, top right 117 ; and patient 3, bottom left 83 ] and isolated sulfite oxidase deficiency [patient 4, bottom right 118 ]. All had the characteristic puffy cheeks, long philtrum, and small nose. Patient 2 was not microcephalic. All photographs are used with permission. (In publication of these photographs, we acknowledge the following individuals: patient 1, Dr. F. Beemer; patient 2, Drs. J. B. C. de Klerk and J. G. M. Huijmans; patient 3, Drs. H. D. Bakker and A. H. van Gennip; patient 4, Dr. W. Brussel. The photograph of patient 1 was published originally by Bohn Stafleu Van Loghum Publishers.) Source: Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: January 13, 2018 Copyright © 2018 McGraw-Hill Education. All rights reserved


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