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[1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. [5]: 1512 Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems [10] and problems with the teeth (dentinogenesis imperfecta). [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 ...
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 ...
When diagnosing blue baby syndrome, it is important to perform a thorough history and physical exam. When obtaining the history, it is important to determine the timing of symptoms and to ask about risk factors/exposures, such as prenatal history or access to well-water. [29] Pulse oximeter on infant's foot.
Al Gazali Sabrinathan Nair syndrome, also known as Al Gazali-Nair syndrome is a very rare multi-systemic genetic disorder which is characterized by developmental delay, facial dysmorphy, and skeletal and ocular abnormalities.
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.
The teenager, who suffered from a severe nut allergy, had allegedly been allowed to leave school property and go to a local pharmacy, where her symptoms were said to have worsened before she ...
The thickness of the sclera varies from 1 mm at the posterior pole to 0.3 mm just behind the insertions of the four rectus muscles. The sclera's blood vessels are mainly on the surface. Along with the vessels of the conjunctiva (which is a thin layer covering the sclera), those in the episclera render the inflamed eye bright red. [6]