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

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. Inher...

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Bibliographic Details
Published in:Human genetics 1978-01, Vol.40 (2), p.157-169
Main Authors: Byers, P H, Holbrook, K A, Hall, J G, Bornstein, P, Chandler, J W
Format: Article
Language:English
Subjects:
Adult
Collagen
Connective Tissue - pathology
Corneal Dystrophies, Hereditary - complications
Humans
Male
Microscopy, Electron
Mucopolysaccharidosis IV - complications
Mucopolysaccharidosis IV - diagnosis
Mucopolysaccharidosis IV - genetics
Mucopolysaccharidosis IV - pathology
Pedigree
Skin - pathology
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Description
Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00272296