DE LANGE SYNDROME - REPORT OF 20 CASES

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  • 1 January 1967
    • journal article
    • research article
    • Vol. 96  (17) , 1185-+
Abstract
Typus Degenera-tivus Amstelodamensis or Amsterdam dwarfism, a syndrome of unknown etiology characterized by mental retardation, a distinctive face, characteristic hands and feet, defective growth and other minor malformations, was 1st described by Cornelia de Lange in 1933. Approximately 69 cases, including 9 autopsies, are reported in the literature. In this paper a further 20, are reported with illustrations of the syndrome from infancy to puberty (including de Lange''s original 3 cases). The historical, physical, laboratory and radiographic findings of de Lange''s 3 patients and the 20 are tabulated. Autopsy findings in 1 of the patients in this study are reported and the literature is briefly reviewed. Although some observers have recently reported chromosome abnormalities in de Lange''s syndrome, it is felt that the diagnosis is made from the history and physical examination and that there are no definitive laboratory aids which can confirm the diagnosis. Chromosome studies in all 20 of the patients from this study were normal and the genetic implications are discussed.

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