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  • Title: Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.
    Author: Pfeiffer RA, Correll J.
    Journal: Am J Med Genet; 1993 Nov 15; 47(7):1014-7. PubMed ID: 8291514.
    Abstract:
    We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.
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