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pubmed:abstractText |
Typus Degenerativus 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 first described by Cornelia de Lange in 1933. Approximately 69 cases, including nine autopsies, have been reported in the literature. In this paper we present a further 20, with illustrations of the syndrome from infancy to puberty (including de Lange's original three cases). The historical, physical, laboratory and radiographic findings of de Lange's three patients and our 20 are tabulated. Autopsy findings in one of our patients are reported and the literature is briefly reviewed.Although some observers have recently reported chromosome abnormalities in de Lange's syndrome, we feel 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 our patients were normal and the genetic implications are discussed.
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