Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings

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Abstract
The clinical and radiological features are described in male and female siblings with a unique form of spondyloepinetaphyseal dysplasia. In addition to generalized platyspondyly with epiphyseal and metaphyseal involvement, these children also have thin tapering fingers with accentuated palmer creases and abnormal dentition with oligodontia and pointed incisors. Parental consanguinity suggests that this is an autosomal recessive disorder.

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