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1,020 Possible Causes for Ectopia Lentis, Scoliosis

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] Patients typically have associated problems in addition to scoliosis.[scoliosisassociates.com] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] Further investigations disclosed lens subluxation in association with myopia, mild scoliosis and osteopenia.[ncbi.nlm.nih.gov] […] girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity and scoliosis[ncbi.nlm.nih.gov]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs.[ncbi.nlm.nih.gov] Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] […] with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis[en.wikipedia.org] […] aortic valve incompetence), urogenital abnormalities (incl. cryptorchidism, vesicoureteral reflux, multicystic renal dysplasia), skeletal involvement (e.g. short stature, scoliosis[orpha.net]

  • MASS Syndrome

    More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis.[ghr.nlm.nih.gov] The skeletal features found in MASS syndrome include curvature of the spine (scoliosis), chest wall deformities, and joint hypermobility.MASS syndrome and Marfan syndrome[en.wikipedia.org] […] possible symptoms are mitral valve prolapse, a large aortic root diameter, and myopia. [1] The skeletal features found in MASS syndrome include curvature of the spine ( scoliosis[en.wikipedia.org]

  • Neurofibromatosis Type 1

    He was referred by his paediatrician with decreased vision secondary to ectopia lentis.[ncbi.nlm.nih.gov] General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires.[ncbi.nlm.nih.gov] […] nondystrophic scoliosis.[ncbi.nlm.nih.gov]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] […] arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis[ncbi.nlm.nih.gov] At NYU Langone, treatment for Marfan syndrome may include medications and devices to help ease or correct symptoms, such as pain, nearsightedness, and scoliosis.[nyulangone.org]

  • Spondylo-Ocular Syndrome

    In most inherited forms of ectopia lentis, findings are limited to the eye.[ommbid.mhmedical.com] Patients typically have associated problems in addition to scoliosis.[scoliosisassociates.com] Ectopia lentis is absent.[rheumatologyadvisor.com]

  • Osteogenesis Imperfecta

    The condition may be associated with osteogenesis imperfecta, ectopia lentis, aniridia, retinitis pigmentosa, Down's syndrome, Ehlers-Danlos syndrome, Marfan's syndrome.[medical-dictionary.thefreedictionary.com] Scoliosis can be divided into the three major types: Idiopathic Scoliosis The cause has not been discovered so far.[lecturio.com] Special consideration is needed in scoliosis surgery, with challenges arising from prone positioning, neurophysiology monitoring, and blood loss.[ncbi.nlm.nih.gov]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    Blepharoptosis myopia ectopia lentis 0 *Blepharoptosis *Ectopia Lentis *Myopia.[reference.md] Patients typically have associated problems in addition to scoliosis.[scoliosisassociates.com] lentis Finger clinodactyly Aortic aneurysm Cardiac arrest Bicuspid aortic valve Microretrognathia Joint dislocation Exotropia Thin skin Abnormality of the sternum Blue sclerae[mendelian.co]

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