defining characteristics
Generalized joint laxity, severe hypotonia and scoliosis at birth, scleral fragility, rupture of ocular globe
disease development
Mutation in PLOD1 causes decreased lysyl hydroxylase in dermis and loss of connective tissue cross-linking capabilities
potential causes
Decreased lysyl hydroxylase
epidemiology
risk factors
Autosomal recessive inheritance
labimaging
Clinical genetic testing
