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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 ...
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
The sclera, like the cornea, contains a basal endothelium, above which there is the lamina fusca, containing a high count of pigment cells. [6] Sometimes, very small gray-blue spots can appear on the sclera, a harmless condition called scleral melanocytosis.
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability.Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.
Discoloured teeth - teeth may be amber, brown, blue or opalescent Bulbous shape to the tooth crown due to cervical constriction Tooth wear /Non-carious tooth surface loss (NCTSL) - due to the poorly mineralised dentine, the enamel of the tooth is unsupported and subsequently shears or chips off as it is subjected to biting forces.
Most conjunctivochalasis is thought to be caused by both a gradual thinning and stretching of the conjunctiva that accompanies age and a loss of adhesion between the conjunctiva and underlying sclera as the result of dissolution of Tenon's capsule.