With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. [books.google.de]

// Taber's Cyclopedic Medical Dictionary;2005, p2206 A definition of the medical term "torticollis" is presented. [connection.ebscohost.com]

Longitudinally grooved fingernails 0008402 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Natal tooth Born with teeth Teeth present [rarediseases.info.nih.gov]

We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. [onlinelibrary.wiley.com]

Birch, MD Chief Complaint History of Present Illness Family History Birth History Growth and Development: The Key Questions 3 - The Orthopaedic Examination: A Comprehensive John G. [catdir.loc.gov]

• Inguinal Hernia

  hernia 0000023 Kyphosis Hunched back Round back [ more ] 0002808 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Muscular hypotonia Low or weak muscle tone 0001252 Naevus flammeus of the eyelid [rarediseases.info.nih.gov]

  hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023 8 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094 9 full cheeks 59 32 occasional (7.5%) Occasional (29-5%) HP:0000293 10 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent [malacards.org]

  hernia Hyperlordosis Long philtrum Pectus carinatum Epicanthus Lactic acidosis Stroke EMG abnormality Lumbar hyperlordosis Hearing impairment Hip contracture Cataract Hypertension Abnormality of the genital system Decreased fetal movement Areflexia Low-set [mendelian.co]

  hernia 【外反脛骨】*tibia valga[L] 【外反股】*coxa valga[L] *collum valgum[L] 【外反手】*talipomanus valga[L] 【外反踵足】*talipes calcaneovalgus[L] 【外反肘】*cubitus valgus[L] 【外反足】*pes valgus[L] *talipes valgus[L] 【外反母趾】*hallux valgus[L] 【外部骨腫】*osteoma externa[L] (咳) 【咳】*cough [medo.jp]

• Tachypnea

  Usually the rise is preceded by skeletal muscle rigidity, cardiac arrhythmia, tachycardia, and tachypnea. [checkorphan.org]

  […] illness, fatigue, stress Diarrhea Thrombocytopenia Abnormality of masseter muscle Ventricular tachycardia Abnormality of the sternum Ventricular arrhythmia Shock Ventricular fibrillation Hyperkalemia Abnormality of the coagulation cascade Muscle stiffness Tachypnea [mendelian.co]

  […] abscess 【表皮水疱症】*bullous epidermolysis *epidermolysis bullosa[L] (略 EB) 【表皮剥離】*epidermolysis 【疲労】*fatigue 【疲労骨折】*fatigue fracture *stress fracture 【貧血】*anemia *a) anemic 【貧血性多発性神経炎】*anemic polyneuritis 【貧毛症】*hypotrichosis *oligotrichia ( 乏毛症、減毛症) 【頻呼吸】*tachypnea [medo.jp]

• Nasal Voice

  voice 0001611 Pectus excavatum Funnel chest 0000767 Prominence of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal [rarediseases.info.nih.gov]

• Clubbed Finger

  苔)* 【苔癬】*lichen 【苔癬様異形成】*lichenoid dysplasia 【苔癬様角化症】*lichenoid keratosis 【苔癬様湿疹】*lichenoid eczema 【苔癬様皮膚症】【苔癬様皮膚病】*lichenoid dermatosis (退)* 【退行形成】【退形成】*retroplasia *anaplasia 【退縮眼振】*retractory nystagmus *nystagmus of retraction (太) 【太鼓バチ状指】【太鼓バチ指】*clubbed [medo.jp]

• Microstomia

  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia Acromelic frontonasal dysostosis Minicore myopathy, antenatal onset, with arthrogryposis Malignant hyperthermia Agnathia-microstomia-synotia [checkrare.com]

  […] swelling 【腫瘍】*tumor *[ 新生物] neoplasm 【腫瘍症】*oncosis (書) 【書痙】*cheirospasm (処) 【処女膜炎】*hymenitis (初) 【初発ヘルニア形成】*incipient herniation (小) 【小胃症】*microgastria 【小下顎症】*microgenia 【小顎症】*micrognathia 【小眼球症】*microphthalmia 【小球症】*microcytosis 【小結腸症】*microcolon 【小口症】*microstomia [medo.jp]

• Premature Tooth Eruption

  tooth eruption - Malignant hyperthermia - Deafness Causes - Malignant hyperthermia arthrogryposis torticollis Rapid temperature increases occur at a rate of about 2º F (1.1 C) every 15 minutes to as high as 109.4 F (43 C). [checkorphan.org]

• Eruptions

  Dysmorphic facial features - Multiple joint contractures - Cleft palate - Abnormal webbing inside mouth - Inability to fully open mouth - Muscle problems - Long thin fingers - Permanent flexion of some fingers - Downturned mouth - Premature tooth eruption [checkorphan.org]

  […] of teeth Early eruption of teeth 0006288 Broad alveolar ridges 0000187 Capillary hemangioma Strawberry birthmark 0005306 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Dyspnea Trouble breathing 0002094 Exaggerated cupid's bow [rarediseases.info.nih.gov]

  HP:0002047 42 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357 43 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182 44 hypoplastic fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001804 45 advanced eruption [malacards.org]

  There is a disruption of the luminal come up and thrombus that is attributed to eruptive, dense, calcified nodules. [sarcomacancer.org]

  SYNDROME Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption [mendelian.co]

• Skin Rash

  […] necrosis Nocturnal hypoventilation Lymphadenopathy Peroneal muscle atrophy Reduced vital capacity Axial muscle weakness Cor pulmonale Abnormality of the rib cage Right ventricular hypertrophy Lumbar scoliosis Thoracolumbar scoliosis Hypoventilation Skin [mendelian.co]

  rash *rash ( 皮疹) 【発疹チフス】*exanthematous typhus *epidemic typhus (哺) 【哺乳障害】*dystithia ( 授乳困難症) (本) 【本態性血小板血症】*essential thrombocythemia (略 ET) 【本態性高血圧】*essential hypertension (バ) 【バセドウ病】*Basedow's disease 【バチ状指】【バチ指】*clubbed finger ( 太鼓バチ状指、太鼓バチ指) 【バネ指 [medo.jp]

• Dolichocephaly

  […] nipples [ more ] 0006610 5%-29% of people have these symptoms Abnormality of the ribs Rib abnormalities 0000772 Advanced eruption of teeth Early eruption of teeth 0006288 Broad alveolar ridges 0000187 Capillary hemangioma Strawberry birthmark 0005306 Dolichocephaly [rarediseases.info.nih.gov]

  […] frequent (99-80%) HP:0003202 11 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175 12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 13 broad alveolar ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000187 14 dolichocephaly [malacards.org]

• Thin Fingers

  […] hyperthermia arthrogryposis torticollis - Torticollis at birth - Progressive scoliosis - Dysmorphic facial features - Multiple joint contractures - Cleft palate - Abnormal webbing inside mouth - Inability to fully open mouth - Muscle problems - Long thin [checkorphan.org]

• Hearing Impairment

  impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Downturned corners [rarediseases.info.nih.gov]

  impairment Abnormality of the cardiovascular system Cortical visual impairment Sudden cardiac death Generalized tonic-clonic seizures Memory impairment Abnormality of neuronal migration Type II diabetes mellitus Progressive sensorineural hearing impairment [mendelian.co]

  impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405 27 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714 28 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561 29 nasal speech 59 32 frequent (33%) [malacards.org]

  impairment Hearing loss Heart aneurysm Heart attack Heart block progressive, familial Heart block Heart defect round face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish [sosu.us]

  impairment (殿) 【殿痛】*pygalgia 【殿部脂肪過多(症)】【殿部脂肪蓄積】*steatopygia (洞) 【洞炎】*sinusitis 【副鼻腔感染】*sinus infection ( 洞感染) (導) 【導管乳頭腫】*ductal papilloma (瞳) 【瞳孔異常】*dyscoria 【瞳孔左右不同症】【瞳孔不同症】*anisocoria 【瞳孔散大】*pupillary dilatation 【瞳孔障害】*pupillary disturbance (動) 【 [medo.jp]

• Widely Spaced Nipples

  nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 5%-29% of people have these symptoms Abnormality of the ribs Rib abnormalities 0000772 Advanced eruption of teeth Early eruption of teeth 0006288 Broad alveolar ridges 0000187 Capillary [rarediseases.info.nih.gov]

• Mask-like Facies

  Arthrogryposis multiplex congenita 0002804 Camptodactyly of finger Permanent flexion of the finger 0100490 Congenital muscular torticollis 0005988 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Long philtrum 0000343 Mask-like [rarediseases.info.nih.gov]

  80%) HP:0001840 17 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610 18 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465 19 hyperconvex fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like [malacards.org]

  Congestive heart failure Generalized muscle weakness Microcephaly Proximal muscle weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic cardiomyopathy Short neck Hepatomegaly Abnormality of the skeletal system Flat face Kyphosis Mask-like [mendelian.co]

• Prominent Nasal Root

  nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis Drooping upper eyelid 0000508 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [rarediseases.info.nih.gov]

• Downturned Corners of the Mouth

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Long palm 0011302 Malignant hyperthermia 0002047 Narrow mouth Small mouth 0000160 Nasal speech [rarediseases.info.nih.gov]

• Nasal Speech

  speech Nasal voice 0001611 Pectus excavatum Funnel chest 0000767 Prominence of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent [rarediseases.info.nih.gov]

  speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611 30 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762 31 abnormal lactate dehydrogenase activity 59 32 frequent (33%) Frequent (79-30%) HP:0045040 32 abnormality of the [malacards.org]

  speech Ventricular hypertrophy Limb muscle weakness Feeding difficulties in infancy Delayed skeletal maturation Visual impairment Abnormality of the pinna Distal arthrogryposis Adducted thumb Acidosis Breech presentation Phimosis Flexion contracture [mendelian.co]

More Symptoms of Malignant hyperthermia arthrogryposis torticollis » Treatments See also the following treatment articles: Treatments for Hyperthermia Causes See also causal information: Causes of Malignant Hyperthermia Causes of Torticollis Genetics [familydiagnosis.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

Treatment - Malignant hyperthermia arthrogryposis torticollis Not supplied. Resources - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]

Sucato Definition History Incidence Etiology Associated Conditions Pathophysiology Natural History Clinical Presentation Imaging Studies Screening Criteria Treatment of the Neonate Treatment of the Young Child (Ages 1 to 6 Months) Treatment of the Child [catdir.loc.gov]

Prognosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. Treatment - Malignant hyperthermia arthrogryposis torticollis Not supplied. Resources - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]

Sucato Definition History Etiology Pathology Clinical Presentation Imaging Studies Classification Systems Based on Radiographic Findings Differential Diagnosis Treatment Long-Term Prognosis 18 - Slipped Capital Femoral Epiphysis John G. [catdir.loc.gov]

Abstract Arthrogryposis multiplex conjenita (AMC) is a rare defect characterized by multiple joint contractures, seen with 3% frequency in newborn period with unknown etiology. [scopemed.org]

Sucato Definition History Etiology Pathology Clinical Presentation Imaging Studies Classification Systems Based on Radiographic Findings Differential Diagnosis Treatment Long-Term Prognosis 18 - Slipped Capital Femoral Epiphysis John G. [catdir.loc.gov]

[…] syndrome 1 carbamyl phosphate synthetase I deficiency 1 carbohydrate glycoprotein deficiency syndrome 1 cardiac anomalies 1 carnitine deficiency 4 caudal regression syndrome 1 cavernous hemangioma 1 cerebellar degeneration 1 cerebral edema of unknown etiology [msdiscovery.org]

Birch, MD Introduction Incidence and Epidemiology Classification Etiology Pathology Clinical Picture Imaging Studies Treatment Complications Long-Term Outcome for Patients with Slipped Capital Femoral Epiphysis 19 - Developmental Coxa Vara John G. [catdir.loc.gov]

Birch, MD Incidence Heredity Clinical Features Radiographic Findings Pathophysiology Biomechanics Treatment 20 - Disorders of the Femur J.A. (Tony) Herring, MD A. Femoral Anteversion B. Intoeing 21 - Disorders of the Knee Karl E. [catdir.loc.gov]

Prevention - Malignant hyperthermia arthrogryposis torticollis Not supplied. Diagnosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. Prognosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]

The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia [onlinelibrary.wiley.com]

02107-1220　DANTROLENE SODIUM Review Summary Review 申請 January 21, 2014 適応 for the treatment of malignant hyperthermia in conjunction with appropriate supportive measures and for the prevention of malignant hyperthermia in patients at high risk. [medmk.com]

Optimally, the cryopreservation media against to become fixed the apheresis products is supplemented with 25 U/mL of DNAse (either dornase alpha or Benzonase ) to prevent cellular aggre- gation associated with the DNA from lysed cells following glacial [waittfoundation.org]