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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]
[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; Hearing loss [2] [5]
Additional physical features include delayed bone age, hypogonadism, blue sclera, high-pitched voice, acrohypoplasia, sparse hair growth, and crowded teeth. [14] The breasts of females reach normal size, and in some are large in relation to body size. [6] It has been suggested that hyperprolactinemia may contribute to the enlarged breast size. [9]
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]
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.
An infantile hemangioma (IH), sometimes called a strawberry mark due to appearance, is a type of benign vascular tumor or anomaly that affects babies. [1] [2] Other names include capillary hemangioma, [6] "strawberry hemangioma", [7]: 593 strawberry birthmark [8] and strawberry nevus.
When the pterygium is removed, the tissue that covers the sclera known as the Tenons layer is also removed. Auto-grafting covers the bare sclera with conjunctival tissue that is surgically removed from an area of healthy conjunctiva. That "self-tissue" is then transplanted to the bare sclera and is attached using sutures or tissue adhesive.
The prognosis is poor if liver, spleen, lung, or bone marrow is affected. [7] A good response to chemotherapy within the first six weeks of treatment, has been found to indicate a better prognosis. In some people the condition is life-threatening. [7] Hence, follow-up is long-term. [7]