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The homozygous mutation causes prenatal onset of recurrent fractures of the ribs and long bones, demineralization, decreased ossification of the skull, and blue sclerae; it is clinically type II or type III. [77] Family members who are heterozygous for OI XVI may have recurrent fractures, osteopenia and blue sclerae. [77] [78]
In children, it is thinner and shows some of the underlying pigment, appearing slightly blue. In the elderly, fatty deposits on the sclera can make it appear slightly yellow. People with dark skin can have naturally darkened sclerae, the result of melanin pigmentation. [4]
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.
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 ...
Brittle-cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [5] [36] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [37] It has two types. Type 1 occurs due to variations in the ...
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A patient displaying dystopia canthorum as well as the hypoplastic blue irises, which are both physical features associated with type 1 Waardenburg syndrome. Type 1 of the Waardenburg syndrome's notable feature is dystopia canthorum. Along with this feature, some patients' eyelids are fused medially, resulting in medial sclerae.
"Blue Cross Blue Shield pays your doctor a $40,000 bonus for fully vaccinating at least 100 patients under the age of two," an Instagram post claimed. "Under Blue Cross Blue Shield's rules ...