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535 Possible Causes for Retinal Pigmentation, Round Face, Scoliosis

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[ncbi.nlm.nih.gov] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com]

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances.[symptoma.com]

  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] Congenital Scoliosis.[dovemed.com] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] Other findings described in the literature are bifid uvula, diffuse cortical atrophy, micrognathia, scoliosis, short stature, microcrania, hypertelorism, and hypotonia 2,4,6,7,10[scielo.br] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com] This is often true for spinal deformities such as scoliosis, hip conditions, knee complications and joint stiffness.[chop.edu] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov]

  • Osteogenesis Imperfecta

    It is believed to result from a combination of the increased opacity of the scleral tissues which allow varying degrees of retinal pigmentation to be visualized and altered[nature.com] Scoliosis can be divided into the three major types: Idiopathic Scoliosis The cause has not been discovered so far.[lecturio.com] […] severity • Similar in appearance and symptoms to Type IV Type VII: • Some cases resemble Type IV and others Type II, except that infants have white sclera, small heads and round[choc.org]

  • Aarskog-Scott Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] 0012774 Large earlobe Fleshy earlobe Fleshy earlobes Prominent ear lobes prominent ear lobules [ more ] 0009748 Mild short stature 0003502 Radial deviation of finger 0009466 Scoliosis[rarediseases.info.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

  • Osteoma

    To describe co-occurrence of choroidal osteoma in a patient with pattern dystrophy of retinal pigment epithelium.[ncbi.nlm.nih.gov] There is a very strong correlation of this neoplasm with scoliosis, since two thirds of spinal osteoid osteomas manifest as painful scoliosis [ 2 ].[scoliosisjournal.biomedcentral.com] General Considerations Benign mature osteogenic lesions Arise from membranous bones in the skull and face Highest incidence in 6 th decade Female to male ratio of 3:1 Usually[learningradiology.com]

  • Neurofibromatosis Type 2

    She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium.[ncbi.nlm.nih.gov] Enlargement and deformation of bones and curvature of the spine ( scoliosis ) may also occur.[webmd.com] Neurofibromas may be soft, or firm and round. Lisch nodules can also occur. These are very small brown spots that may appear in the iris of the eye.[medicalnewstoday.com]

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