Presentation
// Taber's Cyclopedic Medical Dictionary;2005, p2206 A definition of the medical term "torticollis" is presented. [connection.ebscohost.com]
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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]
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]
Entire Body System
- Infertility
Autosomal dominant café au lait spots Cousin syndrome Muenke Syndrome UV sensitive syndrome Maternally inherited diabetes and deafness Facio thoraco genital syndrome Cryptophthalmos Meier-Gorlin syndrome Tyrosinemia type 3 Goodman syndrome Deafness-infertility [checkrare.com]
Respiratoric
- Nasal Voice
[…] 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]
Jaw & Teeth
- 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]
Eyes
- Blepharitis
*hemophthalmia 【眼球突出】*exophthalmia/*exophthalmos/*exophthalmus *protopsis 【眼球粗動】*ocular flutter 【眼球軟化症】*ophthalmomalacia 【眼球ミオクローヌス】*ocular myoclonus 【眼筋麻痺】*ocular paralysis *ophthalmoplegia ⇒外眼筋麻痺 【眼瞼アテローム】【眼瞼粉瘤】*blepharoatheroma 【眼瞼炎】*palpebritis *blepharitis [medo.jp]
Musculoskeletal
- Thin Fingers
fingers - Permanent flexion of some fingers - Downturned mouth - Premature tooth eruption - Malignant hyperthermia - Deafness Causes - Malignant hyperthermia arthrogryposis torticollis Rapid temperature increases occur at a rate of about 2º F (1.1° C [checkorphan.org]
Ears
- Hearing Impairment
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 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]
[…] disorder Hearing 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 [sosu.us]
impairment *[=聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (=鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]
Breast
- Widely Spaced Nipples
[…] intermamillary distance Wide-spaced 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 [rarediseases.info.nih.gov]
Face, Head & Neck
- Mask-like Facies
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]
facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Metatarsus adductus Front half of foot turns inward 0001840 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 [rarediseases.info.nih.gov]
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
[…] 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]
- 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]
Neurologic
- Nasal Speech
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 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]
[…] impairment Attention deficit hyperactivity disorder Joint stiffness Trismus Hyperhidrosis Generalized hirsutism Anxiety Splenomegaly Respiratory arrest High pitched voice Nasal speech Ventricular hypertrophy Limb muscle weakness Feeding difficulties [mendelian.co]
Treatment
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
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]
Etiology
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]
Epidemiology
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]
Pathophysiology
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
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]
【適応】 (悪性高熱症) RYANODEX is a skeletal muscle relaxant drug indicated for: 1) Treatment of malignant hyperthermia in conjunction with appropriate supportive measures. 2) 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]