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6,462 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Pediatric Disorder

  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make[books.google.com] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Pediatrics. 1999;103(6):1158–66. View Article PubMed Google Scholar Manikam R, Perman JA. Pediatric feeding disorders. J Clin Gastroenterol. 2000;30(1):34–46.[ojrd.biomedcentral.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Winchester Syndrome

    Definition / general Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone Terminology Molluscum fibrosum in children[pathologyoutlines.com] The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study.[winchesterhospital.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Fabry Disease

    , and the Society for Pediatric Research.[books.google.de] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] […] autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) — and estimates that more than 25 million Americans have been diagnosed with at least[everydayhealth.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Lattice Corneal Dystrophy Type 1

    Diagnosis of a Corneal Dystrophy in the Pediatric Patient Diagnosing corneal dystrophies in the pediatric patient remains a challenge.[journals.lww.com] A network of thick linear corneal opacities in patient with a variant of LCD1 (LCD type III) due to a homozygous p. Leu527Arg mutation in the TGFBI gene.[commons.wikimedia.org] HOAs Based on Corneal Opacity Grading The amounts of stratified HOAs based on the corneal opacity grading in each case of corneal dystrophy were analyzed ( Fig 2 ).[journals.plos.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    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] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.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]

    Missing: Early-Onset Coronary Artery Stenosis
  • Gaucher Disease

    Society, Society for Pediatric Research, Society for Inherited Metabolic Disorders Disclosure: Nothing to disclose.[emedicine.com] Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea.[ncbi.nlm.nih.gov] CONCLUSION: This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis

    Abstract Mucolipidosis II (ML-II) is a pediatric disorder caused by defects in the biosynthesis of mannose 6-phosphate, the carbohydrate recognition signal responsible for[ncbi.nlm.nih.gov] Central dense corneal opacity typical of Peters anomaly. B .[aao.org] Abstract The severe pediatric disorder mucolipidosis II (ML-II; also known as I-cell disease) is caused by defects in mannose 6-phosphate (Man-6-P) biosynthesis.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    Disorders and Endocrinology, and f Intensive Care Department, University Medical Centre St Radboud, Nijmegen, Netherlands View Full Text[pediatrics.aappublications.org] To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding[medicinenet.com] They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities.[cags.org.ae]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    ., 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] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] 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]

    Missing: Early-Onset Coronary Artery Stenosis

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