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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]
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 ...
The sclera, [note 1] also known as the white of the eye or, in older literature, as the tunica albuginea oculi, is the opaque, fibrous, protective outer layer of the eye containing mainly collagen and some crucial elastic fiber. [2] In the development of the embryo, the sclera is derived from the neural crest. [3]
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.
Eye color outside of the iris may also be symptomatic of disease. Yellowing of the sclera (the "whites of the eyes") is associated with jaundice, [82] and may be symptomatic of liver diseases such as cirrhosis or hepatitis. [83] A blue coloration of the sclera may also be symptomatic of disease. [82]
"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 ...
Pediatric ophthalmologists also have expertise in managing the various ocular diseases that affect children. Pediatric ophthalmologists are qualified to perform complex eye surgery as well as to manage children's eye problems using glasses and medications. Many ophthalmologists and other physicians refer pediatric patients to a pediatric ...