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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]
A 2020 review in The Journal of Bone and Joint Surgery (JB&JS) found it remains broadly popular: ≈ 2 ⁄ 3 of people with OI types III and IV (severe OI) have undergone some form of rodding surgery in their lives, at a mean age of 4 + 1 ⁄ 10 and 7 + 1 ⁄ 2 years respectively; [25]: Table I one possible explanation for a tendency towards ...
Brittle-cornea syndrome (BCS) is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [ 5 ] [ 23 ] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [ 24 ]
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Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). [6]
The AAP defines a BRUE as a sudden, brief episode that occurs to infants less than 1 year of age, lasts less than one minute, and resolves completely on its own prior to being evaluated by a health professional. [2] The event must include at least one of the following: skin color change to blue (cyanosis) or pale (pallor) abnormal breathing
Subacute sclerosing panencephalitis (SSPE), also known as Dawson disease, is a rare form of progressive brain inflammation caused by a persistent infection with the measles virus. The condition primarily affects children, teens, and young adults. It has been estimated that about 2 in 10,000 people who get measles will eventually develop SSPE. [1]
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. It is potentially vision-threatening. [3] [4] In the posterior segment of the eyeball: Vitreous hemorrhage (into the vitreous) [5] [6] Subretinal hemorrhage (under the retina)