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  • Title: The multiple synostoses syndrome. A plea for simplicity.
    Author: Nixon JR.
    Journal: Clin Orthop Relat Res; 1978 Sep; (135):48-51. PubMed ID: 709952.
    Abstract:
    Case reports are presented of a father and daughter suffering from what has formerly been called the Nievergelt-Pearlmansyndrome, and now termed "multiple synostoses syndrome." Features of the condition include: proximal symphalangism; tarsal and carpal coalitions; short first metacarpals and metatarsals; elbow fusions or dysplasias; conductive nerve deafness. This syndrome appears to be inherited as an autosomal dominant trait of variable penetrance, and probably caused by a single gene abnormality.
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