Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.
In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This disorder was later named Lenz-Majewski hyperostotic dwarfism. We describe the reexamination of the original patient at the age of 30 years.
Majewski
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Institute of Human Genetics, University of Düsseldorf, Federal Republic of Germany.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis; D013577:Syndrome