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[5]: 1516 Bones fracture more easily than in the general public, but not as easily as more severe types of OI; there might be scoliosis, albeit mild compared to OI types III and IV, with a lower Cobb angle; the joints may be loose; blue sclerae may be apparent; hearing loss is likely to occur; [47]: Table 1 and there might be a slight decrease ...
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes: History of bone fracture caused by minimal trauma; Short stature; Blue sclera; Hearing loss [2] [5]
Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978. [ 1 ] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue ...
Subconjunctival bleeding occurs in about 2% of newborns following a vaginal delivery. The blood accumulates between the conjunctiva and the episclera. Diagnosis is generally based on the appearance of the conjunctiva. [2] The condition is relatively common, [4] and both sexes are affected equally. Spontaneous bleeding occurs more commonly over ...
The diffuse type of episcleritis may be less painful than the nodular type. Sometimes, small nodules are present within the episclera, which move slightly over the sclera with gentle pressure. [5] Discharge is absent with episcleritis, and vision is unaffected. [5] Patients with episcleritis experience far less photophobia than patients with ...
Scleritis is a serious inflammatory disease that affects the white outer coating of the eye, known as the sclera.The disease is often contracted through association with other diseases of the body, such as granulomatosis with polyangiitis or rheumatoid arthritis.
The face may look asymmetrical and ear infections are common. [5] Between 5 and 75% of cases have been reported to present with signs in the mouth. [5] These include mouth ulcers, bad breath, swollen gums, loose teeth and an unpleasant taste. [5] Destruction of part of the jaw bone may give the appearance of advanced gum disease. [5]