More Info One girl had Moebius syndrome (congenital facial diplegia syndrome) with abducenseand facial nerve paresis. Clavicular pseudarthrosis was confirmed in one http://members.aol.com/kfsconxpgs/moreinfo.htm
Brain -- Sign In Page Familial congenital facial diplegia electrophysiologic and genetic studies. Harrison M, Parker N. congenital facial diplegia. Med J Aust 1960; 6503. http://brain.oxfordjournals.org/cgi/content/full/128/7/1728
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Extractions: Vol. 34 No. 7, July 1977 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Ziter FA Robinson A Articles that cite this article Contact me when this article is cited F. A. Ziter, W. C. Wiser and A. Robinson We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.
Mestrado Translate this page Moebius syndrome, also known as congenital facial diplegia, comprises anheterogeeneous group of conditions, caused by vascular disruption. http://www.unb.br/fs/dd_cesm.htm
Extractions: Moebius syndrome, also known as congenital facial diplegia, comprises an heterogeeneous group of conditions, caused by vascular disruption. Its origin is probably environmental in the vast majority of the cases. There are some works on families with a mendelian pattern of inheritance. Some factors have been implicated in the genesis of the disorder: drugs acting as inductors of uterine contratility, maternal hypotension, maternal trauma and hyperthermia. In the present work we analyze 105 patients with Moebius syndrome seen in the ambulatorys of pediatrics and genetics at the Sarah Network of Hospitals. We studied the association between Moebius and vaginal bleeding. We also analyzed the following parameters: maternal hyperthermia and trauma in the first trimester and polyhydramnius.
Extractions: NINDS Coffin Lowry Hemifacial Spasm ... Trigeminal Neuralgia Related Topics: Bell's Palsy Cleft Lip and Palate Injuries and Wounds Ear, Nose, and Throat ... Up to Top Look up "Facial Injuries and Disorders" in: MedlinePlus - health resources from US government agencies and other credible organizations Clinical Trials Database - research studies in which you can participate This page was last reviewed on Thursday, July 28, 2005. Career Opportunities Visitor Information FOIA
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Jardine, P. Articles by Upadhyaya, M PE Jardine, MC Koch, PW Lunt, J Maynard, KD Bathke, PS Harper and M Upadhyaya Institute of Child Health, Bristol. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these
Síndrome De Möbius: Achados Clínicos E Cirúrgicos Em 7 Pacientes Translate this page As características clínicas mais importantes são paralisia facial do tipo periférico, The congenital facial diplegia Syndrome clinical features, http://www.abonet.com.br/abo/abo64302.htm
Extractions: Síndrome de Möbius: achados clínicos e cirúrgicos em 7 pacientes Introdução A síndrome de Möbius é uma condição pouco comum, caracterizada por paralisia de nervos cranianos associada a outras anormalidades, especialmente dos membros. De acordo com Reed e Grant(1), os primeiros casos foram descritos por Von Graefe em 1880, Harlan em 1881 e Chisolm em 1882. Möbius(2-3), em 1888 e 1892 estudou 43 casos de paralisia dos nervos cranianos, identificando um grupo de 6 pacientes que apresentavam paralisia dos nervos faciais e dos abducentes. Desde então, o nome de Möbius tem sido associado a esta condição. Em 1939, Henderson(4) revisou os achados de 61 pacientes, reconhecendo as anormalidades sistêmicas associadas, ampliando desta maneira o espectro desta síndrome. A etiologia da síndrome de Möbius não é clara, sendo considerada em alguns estudos como resultante de agressão ao feto entre a quarta e quinta semanas da gestação(1). Em alguns casos, porém, parece haver clara evidência de herança autossômica dominante(5). Seja por agressão geneticamente determinada, seja por alterações locais na embriogênese, alguns estudos em animais sugerem a participação de eventos hipóxicos ou isquêmicos cerebrais na etiologia da síndrome de Möbius(6). As características clínicas mais importantes são: paralisia facial do tipo periférico, geralmente bilateral, paralisia do sexto par craniano, atrofia da musculatura lingual e outras anomalias musculares e ósseas, localizadas com maior freqüência nos membros superiores e inferiores, em sua porção distal. Estas alterações produzem uma "facies" característica, de aspecto inexpressivo devido à ausência de mímica facial. Além disso, a boca mantém-se entreaberta e os olhos não se fecham, mas ao tentar fechá-los
Fetal-yawning.ow Translate this page Moebius syndrome comprises a congenital facial diplegia and bilateral abducensnerve palsies by degenerative and involved nuclei of the VI, VII, XII nerves. http://webperso.easyconnect.fr/baillement/recherche/fetal_yawning.ow.html
Extractions: avec l'aide de FreeFind haut de page haut de page haut de page ... haut de page 31 jullet 2005 2006, vol 6, p xxx-xxx lexique bibliographie Fetal yawning : a behavior's birth with 4D US revealed Olivier Walusinski Asim Kurjak, Wiku Andonotopo Department of Obstetrics and Gynecology, Medical School University of Zagreb, Sveti Duh Hospital, Zagreb, Croatia Guillermo Azumendi Unidad Ecografia Centro Gutenberg, Malaga, Spain pdf de cet article Abstract in english The practice of ultrasound examinations during pregnancy allows daily to notice a fetal behavior : yawning. Little data has been published since 25 years and ever coin a sentence as "yawning is a universally well known, but poorly understood"(1) or "a rudimentary reflex, appears to have at best an obscure purpose, if any"(2). Although remarkably little interest has been paid to yawning in research, even though it is an everyday phenomenon, we will discuss the meaning of this behavior and in what its characterization can enhance the ultrasound investigation. As forword, it must be specified that human research on prenatal programming of behavior is intrinsically correlational, never manipulatively experimental, frequently based upon homologies with others vertebrates. All the movements that a newborn is able to produce originated during the fetal life and are performed throughout the life span. Behavior observed in utero, including breathing, yawning, and others serves as a continuum to the activity shown in a newborn infant and undergoes a neuromuscular rewiring (4). The onset and developmental course of fetal motility are studied since the ultrasound technology appears. Four-dimensional sonography (4D-US) provides a tool for movement observations not only for their differentiation but also to categorize specific patterns of behavior. The evaluation of facial expressions was impossible using real time 2D-US. The capacity of 4D-US to evaluate complex facial expressions allows to recognize a common behavior, yawning (5,6).
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Otolaryngology and Facial Plastic Surgery Reconstructive Surgery Last Updated: June 7, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Relevant Anatomy And Contraindications Workup ... Bibliography Author: Kim Lundstrom, MD , Staff Physician, Department of Otolaryngology-Head and Neck Surgery, University of Colorado Health Sciences Center Coauthor(s): Gregory C Allen, MD , Assistant Professor, Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine Kim Lundstrom, MD, is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery , and American Medical Association Editor(s): Michael J Biavati, MD
Hereditary Motor Syndromes Cranial nerves facial diplegia; ± External ophthalmoplegia; ContracturesEspecially Benign congenital spinal muscular atrophy with contractures http://www.neuro.wustl.edu/neuromuscular/synmot.html
Neurology -- Sign In Page is a rare congenital disorder characterized by complete or partial facial diplegia An 8year-old girl presented with facial diplegia and convergent http://www.neurology.org/cgi/content/full/55/7/1058
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Dorlands Medical Dictionary facial diplegia, paralysis affecting both sides of the face. facial diplegia,congenital, Möbius syndrome. Förster s diplegia, atonicastatic d. http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co
Myotonic Dystrophy, Congenital Type NeuroLearn NeuroHelp Muscle Patients have a characteristic facial diplegia with triangularshaped tented mouth, Mental retardation is extremely common in congenital cases. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNN0IE03.htm
Extractions: Myotonic Dystrophy, Congenital Type NeuroLearn NeuroHelp Muscle Background ... Myotonic Dystrophy, Adult Type BACKGROUND AND CLINICAL INFORMATION Head Summary Clinical Features Summary Symptoms usually starts at birth and is characterized by neonatal distress with diffuse muscle hypotonia, breathing and swallowing difficulties, and facial diplegia with characteristic tenting of the upper lips. Patients have a characteristic facial diplegia with triangular-shaped "tented" mouth, and inability to close the eyes fully. Death from respiratory failure is high. Myotonia is not elicitable at birth and the diagnosis may be difficult to be made. Since most mothers are affected, examination of the mother is helpful in establishing the diagnosis. Histochemically, there is abnormal increase in acid phosphatase activity. Genetics: The molecular mechanism and the gene involved is the same as that of the adult type. These children are usually born to affected mother, rarely affected father. Muscle biopsy is not specific and not helpful diagnostically. It is more likely to be confusing rather than helpful. Diagnosis is best based on genetic, clinical, and EMG.
Extractions: Congenital Bilateral Perisylvian Syndrome (CBPS) (Source: National Organization for Rare Disorders General Discussion Congenital Bilateral Perisylvian Syndrome (CBPS) is an extremely rare neurological disorder that may be apparent at birth (congenital), infancy, or later during childhood. It is characterized by partial paralysis of muscles on both sides (diplegia) of the face, tongue, jaws, and throat (pseudobulbar palsy); difficulties in speaking (dysarthria), chewing (mastication), and swallowing (dysphagia); and/or sudden episodes of uncontrolled electrical activity in the brain (epilepsy). In most cases, mild to severe mental retardation is also present. Associated symptoms and findings are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth (neuronal dysmigration). In most cases, the disorder appears to occur randomly for unknown reasons (sporadically). Symptoms Congenital Bilateral Perisylvian Syndrome, also known as CBPS, is characterized by partial paralysis of the muscles on both sides of the face (facial diplegia), seizures, and mental retardation. In those with CBPS, impairment of certain nerves (cranial nerves) that emerge from the brain may result in sudden, involuntary spasms of facial muscles as well as partial paralysis of both sides (diplegia) of the face, jaws, tongue, and throat (pharynx). Impaired control of these muscles may cause difficulty chewing (mastication), swallowing (dysphagia), and/or pronouncing certain sounds and words (dysarthria). In some cases, affected individuals may be unable to speak.
The Answer congenital Bilateral Perisylvian Syndrome is a genetic structural muscles onboth sides of the face (facial diplegia), seizures, and mental retardation. http://www.darn-tootin.com/073103.html
Extractions: July 31, 2003 I think the most appropriate way to approach this entry is to avoid being melodramatic and just tell you what you need to know. So many of you have followed Schuyler's progress over the years, and I feel like even as I place phone calls to family and friends, telling them the news, I owe it to all of you as well. I know a lot of you will email me when you're done reading this, and I think that's great. I hope you'll understand if I don't write back, at least not immediately. I might get a little quiet for a while. We got a call from Schuyler's pediatrician, asking if we could meet with her. When we showed up today for that meeting, we were surprised to discover Schuyler's neurologist as well. We were ushered into a private room. The neurologist produced the scans from Schuyler's MRI and put them up on the light board. Before she started talking, I could already see that it wasn't right. Congenital Bilateral Perisylvian Syndrome is a genetic structural malformation of the brain. It's a static condition, meaning that it isn't degenerative and won't get worse. Schuyler's brain has been like this from the beginning, since before she was born, since before we even knew she existed. It will never get worse, and it will never get better. It is the brain she will always have, and this brain doesn't talk. And it may never talk. We talked for about an hour, cried a lot, and then came home and started making the phone calls. And then we looked up Congenital Bilateral Perisylvian Syndrome online and read more about it, read the parts that the doctors didn't want to drop on us all at once. "I know you're going to go online and look this up when you get home," the neurologist said. "What you read might be pretty rough."
Arquivos De Neuro-Psiquiatria - syndrome is clinically characterized by congenital nonprogressive facial diplegia Clinical examination showed expressionless face, facial diplegia, http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000100017
