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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]
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
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]
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 ...
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.
Small blue round cells of Ewing Sarcoma Display of small round blue cells characteristic of desmoplastic small round cell tumour.. In histopathology, a small-blue-round-cell tumour (abbreviated SBRCT), also known as a small-round-blue-cell tumor (SRBCT) or a small-round-cell tumour (SRCT), is any one of a group of malignant neoplasms that have a characteristic appearance under the microscope ...
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]
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.