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March 1972


Am J Dis Child. 1972;123(3):263. doi:10.1001/archpedi.1972.02110090133024

To the Editor.—Several years ago I reported a syndrome1 which was clearly unusual. To my surprise, pursuit of a diagnosis has led me on an educational journey of syndromes and finally to a definite diagnosis with an improved prognosis for my patient.

Essentially, this is a 19-year-old Chinese-American boy who, throughout his life, has had congenital telangiectasia, some sensitivity to sunlight, dwarfism, and a variety of associated anomalies of the ectodermal and mesodermal tissues. Besides syndactylia of both feet and hands, he had anomalies of the left portion of the rib cage and left ear (no patent ear canal). Other defects included abnormalities in the left ear pinna, a blind left eye, and diminished vision in the right eye. The skin lesions consist of areas of thick, erythematous, friable skin interspersed with areas of thick skin and telangiectasia. Recently the patient has had hypoplasia and fat herniation (Fig

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