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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]
Rootless molars [2] [This is not a comprehensive list] It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes: History of bone fracture caused by minimal trauma; Short stature; Blue sclera
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 ...
Very rare, only 2 cases reported in medical literature 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.
[1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome (KS) affects roughly one in 32,000 births. [4] It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki. [5]
Intraocular hemorrhage is classified based on the location of the bleeding: Hyphema (in the anterior chamber); Suprachoroidal hemorrhage (SCH) is a rare complication of intraocular surgery in which blood from the ciliary arteries enters the space between the choroid and the sclera.
The diagnosis may be suspected based on symptoms and MRI and confirmed by tissue biopsy. [6] [7] Blood tests may show anaemia, and less commonly a low white blood cell count and low platelet count. [5] Treatment may involve surgery, chemotherapy, radiation therapy, and certain medicines. [7]
Symptoms of an open-globe injury include eye pain, foreign body sensation, eye redness, and blurry or double vision. [9] While globe injuries are commonly associated with peri-ocular trauma that may obstruct diagnosis, [4] several signs suggest open-globe damage: Visible corneal or scleral laceration; Sub-conjunctival hemorrhage; Protruding ...