Myotonia, Shortness of Stature, and Hip Dysplasia

IN 1962 Schwartz and Jampel 1 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 colleagues 2 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 Case1.—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