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768 Possible Causes for Ectopia Lentis, Kyphoscoliosis

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] […] metabolism characterized by ectopia lentis (100 per cent), mental retardation 73 per cent), and skeletal abnormalities suggesting the Marfan syndrome (35 per cent), such as kyphoscoliosis[ajronline.org] […] failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched palate, crowded teeth, arachnodactyly, limited joint mobility, pectus excavatum/carinatum, kyphoscoliosis[patient.info]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] Braces and/or surgery may be required to correct kyphoscoliosis.[en.wikipedia.org] 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]

  • 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] Pulmonary Considerations: many of these patients have emphysema , which, combined with kyphoscoliosis and pectus excavatum, can make ventilation more challenging.[openanesthesia.org] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Ehlers-Danlos Syndrome

    MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth,[ncbi.nlm.nih.gov] […] develop kyphoscoliosis later in infancy.[ncbi.nlm.nih.gov] Ocular features An important distinguishing feature between LDS and MFS is the lack of ectopia lentis in LDS ( 28 ).[annalscts.com]

  • X-Linked Hypophosphatemia

    RESULTS: The proband showed a wide spectrum of systemic anomalies, including bilateral ectopia lentis, atrial septal defect, ventricular septal defect, widening of tibial[ncbi.nlm.nih.gov] Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Toriello type Microcephaly-brachydactyly-kyphoscoliosis[se-atlas.de]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] ., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med[ncbi.nlm.nih.gov] […] this gene result in classical MFS, neonatal MFS, autosomal dominant ascending aortic aneurysms, familial arachnodactyly, Shprintzen–Goldberg syndrome and severe progressive kyphoscoliosis[nature.com]

  • Kyphoscoliosis

    The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation[mendelian.co] Kyphoscoliosis Kyphoscoliosis in a 10-year-old girl with HSANIII.[en.wikipedia.org] Kyphoscoliosis may be congenital or acquired and may interfere with the function of intrathoracic organs.[symptoma.com]

  • Ehlers-Danlos-Syndrome Type 10

    MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth,[ncbi.nlm.nih.gov] Urine test: A urine test helps in identifying the kyphoscoliosis type by measuring the level of an enzyme produced by the gene associated with kyphoscoliosis type. 3.[morphopedics.wikidot.com] Related disorders include Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Familial Thoracic Aortic Aneurysm and Dissection, MASS Phenotype, Ectopia Lentis Syndrome, Beals Syndrome[charities.org]

  • Hereditary Hyperphosphatasia

    lentis, familial (EL) FBN1 del Ectopia lentis, isolated, autosomal dominant FBN1 del Ectopia pupillae PAX6 del Ectrodactyly, autosomal recessive WNT10B Ectrodactyly, ectodermal[uniklinik-freiburg.de] […] bisphosphonate therapy, but this may lead to osteopetrosis. [ 5, 9 ] Recombinant versions of osteoprotegerin are under research. [ 10 ] Complications Bone pain Pathological fractures Kyphoscoliosis[patient.info] Short-limb dwarfism, which is normal at birth with progressive kyphoscoliosis, finally resembling Morquio’s disease.[musculoskeletalkey.com]

  • Schwartz-Jampel Syndrome

    It is this myotonia that caused the muscle fibers of Ben’s lenses to be dislocated, leading to a condition called ectopia lentis.[blogs.bu.edu] […] is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis[ncbi.nlm.nih.gov] […] display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low hair-line), kyphoscoliosis[ncbi.nlm.nih.gov]

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