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April 1969

Myotonia, Shortness of Stature, and Hip Dysplasia: Schwartz-Jampel Syndrome

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).

Am J Dis Child. 1969;117(4):470-478. doi:10.1001/archpedi.1969.02100030472016

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