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1,863 Possible Causes for Delayed Bone Age, Early Repolarization, Myoclonic Jerking

  • Hypertrichotic Osteochondrodysplasia

    jerks.[genomeweb.com] bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[genome.jp] Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases[genecards.org]

  • Phenylketonuria

    […] potentially affecting the bone outcomes; lack of literature quality appraisal and assessment of bias; and no correction for age, gender and ethnicity on BMD data (based on[ojrd.biomedcentral.com] This review, however, has methodological limitations: ascertainment bias by inclusion of late diagnosed patients who may suffer from cognitive delays and less physical activity[ojrd.biomedcentral.com]

    Missing: Early Repolarization
  • SHORT Syndrome

    Myoclonic seizures (brief shock-like jerks of a muscle or group of muscles) appear between 1 and 5 years in 85% of children with Dravet syndrome.[epilepsy.com] bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov] High prevalence of early repolarization in short QT syndrome. Heart Rhythm 2010;7:647-52.[acc.org]

  • Cocaine Abuse

    Effects of cocaine abuse on the oral mucosa are still poorly defined. Herein, a case of an 18-year-old male patient with a 15-day history of persistent painful ulcers and aphthous lesions of unknown etiology and with no other remarkable manifestations, is presented. All of the laboratory tests performed showed to[…][ncbi.nlm.nih.gov]

    Missing: Delayed Bone Age
  • Coffin-Lowry Syndrome

    At 11 years of age, his episodes had changed to brief myoclonic jerk and tonic spasm that were triggered by unexpected tactile and auditory stimuli.[ncbi.nlm.nih.gov] Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[genedx.com] Only 1 patient (case 2) had sEMG-documented myoclonic or shock-like jerks after stimuli.[pediatrics.aappublications.org]

    Missing: Early Repolarization
  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Repolarization Syndrome: Epidemiology, Genetics, and Risk Stratification -- Catecholaminergic Polymorphic Ventricular Tachycardia -- Andersen-Tawil and Timothy Syndromes[worldcat.org] The term “terminal-phase” was used to distinguish the observed phenomena from the typical EAD’s seen in LQTS that arise from the plateau or early repolarization phase of the[cogprints.org] During pacing at 1.0 Hz with [K( )]o at 5.4 mM, a stepwise 10% reduction of Kir2.1 channel conductance progressively prolonged the terminal repolarization phase of AP along[senselab.med.yale.edu]

    Missing: Myoclonic Jerking
  • Wilson Disease

    jerking similar to that seen in progressive myoclonic syndrome.[web.archive.org] […] lesions Abdominal imaging findings are neither sensitive nor specific Resting ECG abnormalities include left ventricular or biventricular hypertrophy, early repolarization[emedicine.com] Autonomic disturbances including postural hypotension, abnormal sweating, and sphincter and sexual dysfunction are frequently present. 33 Very rarely, teenage patients exhibit myoclonic[web.archive.org]

    Missing: Delayed Bone Age
  • Neuronal Ceroid Lipofuscinosis

    jerk and visual impairment.[ncbi.nlm.nih.gov] bone age due to thyroid hormone metabolism deficiency Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic atrophy-Pelger-Huët anomaly[csbg.cnb.csic.es] Myoclonic jerks constituted the most prominent paroxysmal phenomenon.[ncbi.nlm.nih.gov]

    Missing: Early Repolarization
  • Sick Sinus Syndrome

    Syncope may be accompanied by myoclonic jerks (convulsive syncope), but postictal confusion is absent.[ncbi.nlm.nih.gov] Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental[rarediseases.org] The simultaneous occurrence of V596M and R16472H may increase the severity of early repolarization.[ncbi.nlm.nih.gov]

  • Niemann-Pick Disease Type B

    NPD types C and D, referred to as the chronic neuronopathic form, have a variety of symptoms that may include grand mal seizures, loss of speech, ataxia, myoclonic jerks,[embryo.asu.edu] bone age Intellectual disabilities Short stature PROGNOSIS Individuals with Niemann-Pick Disease Type A have onset of symptoms such as failing to gain weight and grow appropriately[evolvegene.com] Some individuals may develop a tremor marked by rhythmic, jerking movements (myoclonic tremor).[rarediseases.org]

    Missing: Early Repolarization

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