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PubMed · 709952

The multiple synostoses syndrome. A plea for simplicity.

J R Nixon
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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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Abnormalities, MultipleAdultDeafnessFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHumansInfantMaleSyndromeSynostosisCase ReportsJournal Article

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J R Nixon. 1978. The multiple synostoses syndrome. A plea for simplicity.. https://pubmed.ncbi.nlm.nih.gov/709952/

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