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83 Possible Causes for Early-Onset Severe Scoliosis

  • Scoliosis

    Untreated early onset scoliosis can lead to very severe deformities and respiratory compromise.[] Magnetic controlled growth rods (MCGRs) are increasingly popular for surgical treatment of severe early-onset scoliosis (EOS), because they allow noninvasive extensions with[] S coliosis can develop very early on in childhood. There are several different types of Early Onset Scoliosis “Idiopathic” means of unknown cause.[]

  • Haddad Syndrome

    The hyperextensibility may result in early onset of degenerative joints disease.[] Scoliosis of variable severity is observed in approximately 60% of patients. Anomalies of dentinogenesis are possible manifestations.[]

  • Joint Subluxation

    […] gene) Kyphoscoliosis Generalized joint laxity, severe muscle hypotonia, scoliosis, scleral fragility Tissue fragility, easy bruising, arterial rupture, Marfanoid habitus,[] onset varicose veins, arteriovenous fistulae, pneumothorax, gingival recession, positive family history Autosomal dominant Structural defects of type III collagen ( COL3A1[] […] arterial, intestinal, or uterine fragility; extensive bruising; characteristic facial appearance Acrogeria, small joint hypermobility, tendon or muscle rupture, clubfoot, early[]

  • Early Infantile Epileptic Encephalopathy Type 2

    The phenotype was characterized by early-onset seizures, delayed psychomotor development, hypotonia, scoliosis, microcephaly, lack of speech development, stereotypic hand[] Rosas-Vargas et al. (2008) reported 3 unrelated girls with severe infantile encephalopathy associated with mutations in the CDKL5 gene (see, e.g., 300203 .0009).[]

  • Bruck Syndrome

    […] congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia[] OMIM : 57 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[] Get Update Overview Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe[]

  • Kyphoscoliosis

    early-onset scoliosis treated with multiple surgeries with areas of his spine that did not completely heal.[] Her 3-dimensional CT scan and sagittal MRI show her severely angular midthoracic deformity with tenting and MORE Cameron R. 9 8-year-old male with neurofibromatosis with resultant[]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    […] of severity Some never walk Poor prognosis Scoliosis early Later onset: Better prognosis Progression Most have loss of function over time ?[] . SMA type IV (adult onset): Onset is in adulthood(mean onset, mid 30s). 53.  Childhood or Juvenile Cramps may be 1st symptom Weakness Proximal; Symmetric Variable degrees[]

  • Hereditary Hyperekplexia

    Nephrotic syndrome, type 8 Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral[] […] sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.[] scoliosis or kyphoscoliosis.[]

  • Kyphosis

    If your child has kyphosis and early-onset scoliosis, clinicians will likely recommend VEPTR implantation.[] The VEPTR was created specifically as a lifesaving treatment for thoracic insufficiency syndrome, in which a child's spinal curve is severely affecting lung growth.[]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    […] age: Neonatal Hypotonia: Perinatal Motor, early Development: Delayed Feeding difficulty Weakness Severe Axial & Generalized Respiratory Face Course: Slow progression Ophthalmoplegia[] (40%) Skeletal Palate: High arched Scoliosis (60%) Cardiac: Normal Laboratory Muscle biopsy Fiber size: Varied Intermyofibrillar network: Abnormal; "Alveolar" ; Mini-cores[] Pro742Gln; Pro742Ser; Leu1367Val Recessive missense: Glu100Lys; Phe275Leu CACNA1S protein effects CACNA1S levels: Reduced Ca release induced by depolarization: Impaired Clinical Onset[]

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