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  • Title: Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
    Author: Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K.
    Journal: Am J Med Genet; 1990 Sep; 37(1):10-4. PubMed ID: 2240023.
    Abstract:
    Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.
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