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143 Possible Causes for Coronal Cleft of Vertebrae, Percussion Myotonia

  • Schwartz-Jampel Syndrome

    Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[ncbi.nlm.nih.gov] cleft vertebrae 0003417 Joint contracture of the hand 0009473 Kyphoscoliosis 0002751 Low-set ears Low set ears Lowset ears [ more ] 0000369 Lumbar hyperlordosis Excessive[rarediseases.info.nih.gov] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.org]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[ncbi.nlm.nih.gov] Percussion myotonia of the tongue and thenar muscles could be elicited at room temperature. Myotonia was aggravated by cold.[ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae
  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org] Proband shows percussion myotonia of the tongue.[indianpediatrics.net]

    Missing: Coronal Cleft of Vertebrae
  • Weissenbacher-Zweymuller Syndrome

    cleft vertebrae 0003417 Delayed gross motor development Delayed motor skills 0002194 Delayed speech and language development Deficiency of speech development Delayed language[rarediseases.info.nih.gov] cleft vertebrae Delayed gross motor development Delayed speech and language development Depressed nasal bridge Glossoptosis Hypertelorism Metaphyseal widening Mild neurosensory[dovemed.com] cleft of the lumbar vertebrae).[encyclopedia.com]

    Missing: Percussion Myotonia
  • Kniest Dysplasia

    Two key features to look for in a patient with Kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae.[en.wikipedia.org] In infancy, coronal clefting may be seen in the lumbar vertebrae. The ilia are broad with hypoplastic basilar portions.[musculoskeletalkey.com]

    Missing: Percussion Myotonia
  • Atelosteogenesis

    […] palate 0000175 Coronal cleft vertebrae 0003417 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge[rarediseases.info.nih.gov] The clavicles are relatively elongated (A), the thorax is small and bell-shaped (B), and the vertebrae have scoliosis and coronal clefts (C).[synapse.koreamed.org] Some infants, however, have lived for a short time with intensive medical support. 0001939 Autosomal recessive inheritance 0000007 Cervical kyphosis Rounded neck 0002947 Cleft[rarediseases.info.nih.gov]

    Missing: Percussion Myotonia
  • Rhizomelic Chondrodysplasia Punctata Type 1

    clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation.[medical-dictionary.thefreedictionary.com] The vertebrae have coronal clefting. The cartilage abnormalities result in defective bone growth with severe growth retardation, short stature, and joint contractures.[disorders.eyes.arizona.edu] (Conradi-Hünermann syndrome), and a milder X-linked form. chon·dro·dys·pla·si·a punc·ta·'ta [MIM*215105] a developmental disorder characterized by epiphysial stippling, coronal[medical-dictionary.thefreedictionary.com]

    Missing: Percussion Myotonia
  • Metabolic Syndrome

    Muscle weakness, Percussion-induced myotonia Other features N/A Terato- zoospermia Short stature, Hypocalcemia, Vitamin D resistance Low bone density for age, distal metaphyseal[ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae
  • Spondylo-Ocular Syndrome

    myotonia Frontal balding Preauricular pit Accelerated skeletal maturation Facial hypotonia Testicular atrophy Decreased body weight Low posterior hairline Webbed neck Atrial[mendelian.co] Coronal clefts of the vertebral bodies, together with symmetrical distribution of the calcifications, and symmetrical shortening of the long tubular bones, are distinctive[rrnursingschool.biz] […] abdominal wall Hypertension Nonimmune hydrops fetalis Atherosclerosis Hyperextensible skin Subcapsular cataract Iris hypopigmentation Increased susceptibility to fractures Percussion[mendelian.co]

  • Myotonia Congenita

    The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic[ncbi.nlm.nih.gov] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz] On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com]

    Missing: Coronal Cleft of Vertebrae

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