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. 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.
D000328:Adult; D003094:Collagen; D003238:Connective Tissue / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000150:complications*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009085:Mucopolysaccharidosis IV / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D012867:Skin / Q000473:pathology
D003094:Collagen