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Schwartz-Jampel Syndrome

Tullio R. Mereu, MD; Ian H. Porter, MD; George Hug, MD

Am J Dis Child. 1969;117(4):470-478.

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

IN 1962 Schwartz and Jampel¹ described a brother and sister with a disorder characterized by shortness of stature, myotonia, skeletal anomalies, and unusual ocular and facial abnormalities. Aberfeld and his colleagues² later published a report of the same patients in which they emphasized the skeletal manifestations. We have recently studied a brother and a sister with what we believe to be the same syndrome.

Report of Cases

CASE 1.—A 3-year-old boy was admitted to the Albany Medical Center Hospital because of failure to thrive.

He was the product of a normal full term pregnancy and uneventful vaginal delivery. His birth weight was 3,660 gm (8 lb 2 ounces). Shortly after discharge from the nursery, he was noted to have a right inguinal hernia which was repaired, and at 3 months of age he had a left inguinal and umbilical hernia repaired. At this time, he was found to have . . . [Full Text PDF of this Article]

Author Affiliations
Albany, NY; Cincinnati

From the Department of Pediatrics, Albany Medical College, Albany, NY (Drs. Mereu and Porter) and the Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati (Dr. Hug).

Footnotes
Received for publication June 24, 1968.

Reprint requests to Albany Medical College, 47 New Scotland Ave, Albany, NY 12208 (Dr. Mereu).

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