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307 Possible Causes for Coarse Face, Retinal Pigmentation, Round Face

  • 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.[] […] 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[] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[]

  • Mucopolysaccharidosis

    pigment epithelium.[] ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of[] Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] […] nevi 10 cases2319 Muscular atrophy - ataxia - retinitis pigmentosa - 10 cases 2959 Pseudo-Zellweger syndrome 10 cases2579 diabetes mellitus 10 cases 2981 Singleton-Merten[]

  • 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.[] Retinal pigment epithelial atrophic changes were documented in two (11%) patients with MPS IH Hurler, five (56%) patients with MPS IH/S Hurler/Scheie ( Figure 4 ), and two[] pigment epithelial changes suggestive of retinopathy in a significant proportion of MPS IH/S Hurler/Scheie (56%) and MPS IS Scheie patients (66%).[]

  • 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[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[]

  • Gardner Syndrome

    BACKGROUND: It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial[] Epidermoid cysts commonly occur on the back, face, and chest, and communicate with the skin through a small, round, keratin-filled plug ( Figure 17 ).[] Congenital malformation: cleft lip or palate, frontal bossing, coarse face, or moderate or severe hypertelorism.[]

  • Hypertrichotic Osteochondrodysplasia

    pigmentation Short foot Aplasia/Hypoplasia of the thumb Glaucoma Hyperactivity Abnormality of blood and blood-forming tissues Absent sternal ossification Gastroesophageal[] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[]

  • Trisomy 12p

    pigmentation, macular abnormality) occur.[] face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo /hyper- pigmented streaks on the skin.[] […] impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal[]

  • Occult Macular Dystrophy

    Fundus autofluorescence imaging is a recent method to detect early retinal pigment epithelial alterations.[] The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[] face with full lips syndrome Deafness-skeletal dysplasia-lip granuloma syndrome Deafness-small bowel diverticulosis-neuropathy syndrome Deafness-thyroid hormone resistance[]

  • Beckwith-Wiedemann Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[] […] syndrome, photosensitivity with IBIDS Pili torti-deafness syndrome Podencephalus Polysomatous monster Port-wine stain in Rubinstein-Taybi syndrome Progeroid short stature with pigmented[]

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