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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD
Am J Dis Child. 1972;123(6):583-584. doi:10.1001/archpedi.1972.02110120107013.
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Denouement and Discussion 

de Lange Syndrome (Brachmann-de Lange Syndrome, Typus Amstelodamensis) 

Manifestations  Major manifestations include mental and growth retardation, microcephaly, hirsutism, skeletal abnormalities, and a characteristic facial appearance. The facial findings include confluent eyebrows (synophrys), anteverted nostrils, elongated or protruding upper lip (or both), broad bridge of the nose, thin lips, down turned corners of the mouth, micrognathia, and low set ears. There is a bluish tinge around the eyes, nose, and mouth. Although the condition is usually recognizable at birth, in several instances the facial appearance has not been characteristic in early life, but became typical after several months of age. The mental retardation is usually moderate to severe with the vast majority of the patients having an intelligence quotient below 50. The height and weight are almost always below the third percentile. Eye abnormalities include narrow palpebral fissures, long eyelashes, antimongoloid slant, strabismus, ptosis, nystagmus, epicanthal folds, plus other anomalies. Some of the skeletal abnormalities include proximally placed thumbs,


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