Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for autosomal recessive inheritance.
D000293:Adolescent; D000367:Age Factors; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D009085:Mucopolysaccharidosis IV / Q000145:classification / Q000235:genetics*; D010375:Pedigree