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November 1964

The de Lange Syndrome: Typus Amstelodamensis

Author Affiliations

Henry K. Silver, MD, Professor, Department of Pediatrics, University of Colorado Medical Center, 4200 E Ninth Ave, Denver, Colo 80220.

Am J Dis Child. 1964;108(5):523-529. doi:10.1001/archpedi.1964.02090010525011

In 1933, Cornelia de Lange1 of Amsterdam called attention to the first of a group of children2-14 with a syndrome whose principal clinical findings include a typical facies with a small nose, anteverted nostrils, a thin, downturned mouth, eyebrows that meet in the midline, and long, curly eyelashes, as well as abnormally small limbs, flexion contracture of the elbows, a low-pitched, growling cry, short stature, and mental retardation. The syndrome has recently been comprehensively reviewed by Jervis and Stimson15 and by Ptacek and co-workers.16 This report presents an additional typical case of the de Lange syndrome and notes the findings in 44 known cases.2-22

Report of a Case  This white Jewish female was born after a 37-week gestation and weighed 2,120 gm (4 lb 11 oz). Fetal movements were reportedly normal. The mother, who was 29 years old, had been well during pregnancy. She had