Summary
Several individuals from one family are described with a unique form of spondyloepiphyseal dysplasia. Characteristic features include shorttrunked short stature, punctate corneal dystrophy and marked disorganization of dermal collagen fibrils when examined by transmission electron microscopy. Inheritance is compatible with either dominance and a variable expression or X-linkage. Although the basic defect has not been determined, the tissue distribution is consistent with a defect in a non-collagenous component that affects collagen fibril formation or stability.
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Byers, P.H., Holbrook, K.A., Hall, J.G. et al. A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils. Hum Genet 40, 157–169 (1978). https://doi.org/10.1007/BF00272296
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DOI: https://doi.org/10.1007/BF00272296