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526 Possible Causes for Pediatric Disorder, 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.[patient.info] […] 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] Abstract Mucopolysaccharidosis type II (MPSII) is an inherited disorder due to a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] Adv Pediatr 33:269–302, 1986. PubMed Google Scholar 17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.[link.springer.com]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] Peroxisomal disorders: A newly recognised group of genetic diseases. Eur J Pediatr 1986;144(5):430-40. Gould SJ, Raymond GV, Valle D.[acta.tums.ac.ir] 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]

  • Aarskog-Scott Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] 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] Aarskog Syndrome Pediatric Database (PEDBASE), 2007 An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.[ibis-birthdefects.org]

  • 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[ncbi.nlm.nih.gov] Epidermoid cysts commonly occur on the back, face, and chest, and communicate with the skin through a small, round, keratin-filled plug ( Figure 17 ).[aafp.org] Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[scielo.br]

  • Kearns-Sayre Syndrome

    The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[ncbi.nlm.nih.gov] […] symptoms in infants, children, and young adults through images of common and unusual presenting features for over 300 pediatric disorders.[euro-libris.ro] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.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] ., The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr, 2004. 144(5 Suppl): p. S27-34. 2). Beesley, C.E., D.[egl-eurofins.com] The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov]

  • Vitamin D Deficiency

    Many parts of the human eye, including the epithelium of the cornea, lens, ciliary body, and retinal pigment epithelium, as well as the corneal endothelium, ganglion cell[ncbi.nlm.nih.gov] NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz] Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

  • 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] 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] Despite new awareness of pediatric vestibular disorders, children are currently not typically screened for them, and as a result frequently fail to receive medical treatment[vestibular.org]

  • 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] Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov] […] 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]

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