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Spondylometaphyseal dysplasia: further heterogeneity

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Abstract

The spondylometaphyseal dysplasias are a very heterogeneous group of disorders. Only one has been clearly defined, namely, the spondylometaphyseal dysplasia — Kozlowski type, known also as the “common type”. This disorder is inherited as an autosomal dominant trait. In this report we describe an Arabic-Moslem kindred with spondylometaphyseal dysplasia, not of the common type, with an autosomal dominant mode of inheritance, indicating further heterogeneity.

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Borochowitz, Z., Berant, M. & Kristal, H. Spondylometaphyseal dysplasia: further heterogeneity. Skeletal Radiol 17, 181–186 (1988). https://doi.org/10.1007/BF00351004

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