Abstract
Spondylometaphyseal dysplasia (SMD), a heterogeneous group of chondro-osseous dysplasias with combined vertebral and metaphyseal abnormalities, is being recognized and reported more frequently. The cumulative experience with these patients suggests that the Kozlowski type of SMD is a distinct form, and transmitted as an autosomal dominant. Many other forms of SMD exist which, as yet, cannot be completely classified. A father and daughter who demonstrate a variant form of SMD, both with absence of the odontoid processes, are described and their place in the spectrum of this group of diseases is discussed.
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