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77 Possible Causes for Retinal Pigmentation, Round Face, Spinal Stenosis

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression.[ncbi.nlm.nih.gov] Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and[ncbi.nlm.nih.gov]

  • 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] Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[secure.ssa.gov] stenosis The presentation of MPS 2B usually occurs in adolescence or adulthood.[symptoma.com]

  • 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] Narrowing of the spinal canal ( spinal stenosis ) in the neck can compress and damage the spinal cord.[ghr.nlm.nih.gov] […] the subcortical white matter with expanded, fluid-filled perivascular spaces, spinal stenosis, and cord compression. 7 The first neuroradiologic studies in MPS were performed[ajnr.org]

  • Aarskog Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Atrophy Spinocerebellar Ataxia Spondyloepiphyseal Dysplasia Stickler Syndrome Stuve-Wiedemann Syndrome Succinic Semialdehyde Dehydrogenase Deficiency Supravalvar Aortic Stenosis[hfi-ivf.com] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] Stenosis Congenital Scoliosis and Kyphosis Neuromuscular Scoliosis Idiopathic Scoliosis Schmorl Node Scheuermann Disease Achondroplasia Mucopolysaccharidoses Sickle Cell[euro-libris.ro] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov]

  • Occult Macular Dystrophy

    Fundus autofluorescence imaging is a recent method to detect early retinal pigment epithelial alterations.[ncbi.nlm.nih.gov] […] muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary[orpha.net] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[en.wikipedia.org]

  • Sorsby Syndrome

    Register OBESITY, HYPOGENITALIS, MENTAL RETARDATION, POLYDACTYLY, AND RETINAL PIGMENTATION THE LAURENCE-MOON-BIDL SYNDROME - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00[academic.oup.com] Atrophy Spinocerebellar Ataxia Spondyloepiphyseal Dysplasia Stickler Syndrome Stuve-Wiedemann Syndrome Succinic Semialdehyde Dehydrogenase Deficiency Supravalvar Aortic Stenosis[hfi-ivf.com] Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[ijo.in]

  • Osteoma

    To describe co-occurrence of choroidal osteoma in a patient with pattern dystrophy of retinal pigment epithelium.[ncbi.nlm.nih.gov] 広範脊柱管狭窄症 Spinal stenosis 広範脊柱管狭窄症 1 不要 有 HPS1978 HPS1979 HPS1980 HPS1981 71.[cell.brc.riken.jp] 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]

  • Amyloidosis

    The circulating protein is synthesized predominantly in the liver, but there is also important local production in the eye by retinal pigment epithelial cells and by the choroid[nejm.org] The prevalence of spinal stenosis related to the presence of amyloid in this specific subgroup of patients is probably underestimated.[ncbi.nlm.nih.gov] Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[circ.ahajournals.org]

  • Rheumatoid Arthritis

    Funduscopic examination and SD-OCT showed a swollen ellipsoid zone (EZ) and a retinal pigment epithelium (RPE) irregularity of the right eye.[ncbi.nlm.nih.gov] Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) T Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome[rheumatology.org] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[orthop.washington.edu]

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