Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1978 Jan 19;40(2):157-69.
doi: 10.1007/BF00272296.

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

P H Byers, K A Holbrook, J G Hall, P Bornstein, J W Chandler
Case Reports

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

P H Byers et al. Hum Genet. .

Abstract

Several individuals from one family are described with a unique form of spondyloepiphyseal dysplasia. Characteristic features include short-trunked 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.

PubMed Disclaimer

References

    1. Arch Dis Child. 1962 Oct;37(195):525-34 - PubMed
    1. J Biophys Biochem Cytol. 1961 Feb;9:409-14 - PubMed
    1. J Biol Chem. 1976 Feb 10;251(3):895-7 - PubMed
    1. Humangenetik. 1971;11(3):190-212 - PubMed
    1. J Biol Chem. 1977 Jan 10;252(1):254-9 - PubMed

Publication types

LinkOut - more resources