Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. [ncbi.nlm.nih.gov]

When the accompanying potential financial struggles are added in, suddenly the world feels as though it is collapsing around you. [disabilitybenefitscenter.org]

However, he died unexpectedly at 6 weeks of age with the cause of death being attributed to sudden infant death syndrome (SIDS). Necropsy showed abnormal rib morphology with anterior flaring and evidence of a healing left femoral fracture. [jmg.bmj.com]

[…] to moderate fragility without deformity Most fractures occur before puberty Associated with blue sclerae, triangular face, hearing loss (beginning in twenties or thirties), easy bruising Type II Most severe form of OI (perinatal lethal) Stillbirth or death [physio-pedia.com]

clinical course can follow when angulated femora are detected in early pregnancy or at birth. [jmg.bmj.com]

shin appearance of tibia dental abnormalities (brown, opalescent teeth) Evaluation Diagnosis made by clinical and radiographic findings (skeletal survey) Confirmed with DNA (blood or saliva) or protein testing (skin biopsy) Differential Non-accidental [medbullets.com]

shins skull radiographs reveal wormian bones coxa vara Evaluation Labroratory mildly elevated ALP Histology increased diameter of haversion canals and osteocyte lacunae replicated cement lines increased number of osteoblasts and osteoclasts decreased [orthobullets.com]

In some cases, individuals with OI type I may develop abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment (i.e., conductive and/or sensorineural hearing loss). [rarediseases.org]

In general, four major clinical features characterize osteogenesis imperfecta 5 : osteoporosis with abnormal bone fragility blue sclera dentinogenesis imperfecta hearing impairment Other features include ligamentous laxity and hypermobility of joints, [radiopaedia.org]

impairment Deafness Hearing defect [ more ] 0000365 Kyphosis Hunched back Round back [ more ] 0002808 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Multiple prenatal fractures Multiple fractures present at birth Multiple fractures [rarediseases.info.nih.gov]