Presentation
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.com]
It must be noted that arthrogryposis as a physical sign is present in many other conditions as well. Amyoplasia is the most common type of arthrogryposis. [boneandspine.com]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Inguinal, umbilical, or diaphragmatic hernias may be present. Thickness in joints, symphalangism, and abnormalities in tendon attachment and length may also be present. [groups.yahoo.com]
[…] noted The distinct positioning of the body includes internally rotated and adducted shoulders; fixed, extended elbows; pronated forearms; and flexed wrists and fingers A severe talipes equinovarus deformity with either flexed or extended knees may be present [emedicine.medscape.com]
Entire Body System
-
Physician
In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic's Medical Staff Association recognized Dr. [books.google.com]
Refer the patient to clinical geneticists and physicians (especially orthopedists) who are experienced in treating arthrogryposis to ensure that the patient receives proper diagnosis, genetic counseling, and management of contractures. [groups.yahoo.com]
Jaw & Teeth
-
Macrostomia
[…] with deafness, encephalopathy, and Leigh-like syndrome 3MC syndrome 47, XYY Syndrome 49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]
[…] hypogonadism-intellectual disability-skeletal anomalies syndrome Mammary-digital-nail syndrome Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia [se-atlas.de]
Musculoskeletal
-
Back Pain
Disease 265 Chapter 129 Kyphosis 266 Chapter 130 LeggCalvéPerthes Disease 268 Chapter 131 Leiomyosarcoma 270 Chapter 132 Limb Length Discrepancy 272 Chapter 133 Lipoma 274 Chapter 134 Liposarcoma 276 Chapter 135 Lisfranc Fracture 278 Chapter 136 Low Back [books.google.com]
-
Neuropathic Arthropathy
Arthropathy Charcot Joint 323 Chapter 157 NSAIDs 325 Chapter 158 Os Odontoideum 327 Chapter 159 Osteoarthritis 329 Chapter 160 Osteoblasts 331 Chapter 161 Osteochondritis Dissecans 333 Chapter 162 OsteochondrodysplasiaDwarfing Conditions 335 Chapter [books.google.com]
-
Low Back Pain
Back Pain 280 Chapter 137 Lower Cervical Spine Injuries 282 Chapter 138 Lumbosacral Plexus 284 Chapter 139 Mallet Finger 286 Chapter 140 Marfan Syndrome 287 Chapter 141 Median Nerve Disorders 289 Chapter 142 The Meniscus 292 Chapter 143 Metastatic Tumor [books.google.com]
Workup
Neurofibromatosis Congenital myotonic dystrophy Congenital myasthenia gravis Popliteal pterygium with facial clefts Pseudotrisomy 18 Spinal muscular atrophy Sturge-Weber syndrome Toriello-Bauserman syndrome X-linked lethal arthrogryposis Zellweger syndrome Workup [groups.yahoo.com]
Treatment
He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]
Charlie M syndrome Symptoms, Diagnosis, Treatments … Charlie M syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. [bamtoi.com]
[…] plan can be designed. [12] In cases of isolated microglossia, such as ours, distraction osteogenesis and orthodontic intervention are the mainstay of treatment. [13] There is still no consensus on the timing of treatment but orthodontic treatment should [jmedsoc.org]
Treatment Arthrogryposis cannot be cured. The treatment goals are ambulation and self-care. Lower limb alignment for ambulation and upper limb alignment for self-care is done. [boneandspine.com]
Prognosis
Charlie M syndrome Symptoms, Diagnosis, Treatments … Charlie M syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. [bamtoi.com]
Prognosis Ventilator dependence in the neonatal period is associated with a poor prognosis. Prognosis also depends on natural history and the patient’s response to therapy. [boneandspine.com]
Prognosis depends on whether defects are intrinsically or extrinsically derived. Extrinsically derived contractures carry an excellent prognosis, whereas intrinsically derived contractures carry a prognosis that depends on the etiology. [groups.yahoo.com]
The prognosis seems to be graver as the number of malformations increases. Infants with faciocardiomelic syndrome do not live for more than 3 weeks. [jmedsoc.org]
Etiology
No teratogen has been detected in patients with this syndrome. [3] Its etiology must be searched for in some sort of fetal cell traumatism in the first few weeks of gestation. [jmedsoc.org]
Extrinsically derived contractures have a low recurrence risk, whereas the recurrence risk for intrinsically derived contractures depends on etiology. [groups.yahoo.com]
Epidemiology
Summary Epidemiology It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. [orpha.net]
Pathophysiology
Pathophysiology of Arthrogryposis Decreased fetal movements or fetal akinesis has been suggested to be the major contributory cause. The decrease in activity could be due to fetal abnormalities or maternal disorders like. [boneandspine.com]
Pathophysiology The major cause of arthrogryposis is fetal akinesia (ie, decreased fetal movements) due to fetal abnormalities (eg, neurogenic, muscle, or connective tissue abnormalities; mechanical limitations to movement) or maternal disorders (eg, [groups.yahoo.com]
Prevention
Charlie M syndrome Symptoms, Diagnosis, Treatments … Charlie M syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. [bamtoi.com]
Deterrence/Prevention Recurrence risk depends on whether the contractures are extrinsically or intrinsically derived. [groups.yahoo.com]