Congestive heart failure, Convex nasal ridge, Crumpled long bones, Decreased calvarial ossification, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Femoral bowing present at birth, straightening with time, Frontal bossing, Hearing impairment, Increased susceptibility to fractures, Kyphosis, Large fontanelles, Micrognathia, Multiple prenatal fractures, Neonatal short-limb short stature, Nonimmune hydrops fetalis, Otosclerosis, Pectus carinatum, Pectus excavatum, Platybasia, Platyspondyly, Premature birth, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short lower limbs, Short stature, Slender long bone, Small for gestational age, Thin skin, Tibial bowing, Triangular face, Wide anterior fontanel, Wormian bones, obsolete Beaded ribs

decreased femur maximal load, decreased femur stiffness, decreased femur yield load, decreased skin tensile strength, decreased trabecular bone thickness, decreased trabecular bone volume, increased bone trabecular spacing, increased internal diameter of femur, postnatal lethality, incomplete penetrance, premature death