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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]
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]
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.
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 ...
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 ...
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye's iris [1] [2] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Sclerocornea is an extremely rare congenital anomaly of the eye, it is considered a form of congenital corneal opacity (CCO) with no clear gender bias, in which the cornea blends with sclera, having no clear-cut boundary. [1] The extent of the resulting opacity varies from peripheral to total (sclerocornea totalis).