LANDOUZY-DEJERINE MUSCULAR DYSTROPHY feature of this group of diseases is the congenital absence of and relatively rapidprogression and an association with facial diplegia, sensorineural deafness http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=483
New Syndrome - 2003 Rajab congenital generalized lipodystrophy, mental retardation, deafness, short Reardon- Deafness associated with bilateral facial diplegia, ptosis and http://www.rusmedserv.com/genetics/newsynd/2003.htm
Extractions: First Author - References ( Abstracts ) Ahn - A new autosomal recessive syndrome with Zellweger-like manifestations Atrouni - Leukodystrophy associated with oligodontia in a large inbred family Basel-Vanagaite - New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death. Ben-Zeev - Progressive cerebellocerebral atrophy-a new syndrome with microcephaly, mental retardation, and spastic quadriplegia ( J Med Genet 2003, 40, e96 ) ... Witters - Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations ...
Entrez PubMed Brainstem dysgenesis report of five patients with congenital hypotonia, multiple Noabstract, Isaolated facial diplegia associated with acute HIV infection http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search&db=pubmed&term=facial d
ADC -- Abstracts: Harper 50 (7): 505 A clinical and genetic study of congenital myotonic dystrophy in features includedneonatal hypotonia, motor and mental retardation, and facial diplegia. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;50/7/505
Extractions: A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period.
Pediatrics In Review congenital myotonic dystrophy, also known as Steinert disease, is an autosomal life,motor function may improve significantly, although facial diplegia persists http://medicine.ucsd.edu/peds/Pediatric Links/Links/Neurology/Hypotonia in Infan
Extractions: Volume 17 Number 3 March 1996 Neonatal hypotonia can have many different etiologies. Floppiness in an infant can be caused at various levels of the nervous system from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders, and myopathies. A variety of diagnostic tools are available for defining the source of the hypotonia, but before any serum values, muscle biopsies, electromyelograms (EMGs), or nerve conduction studies are ordered, a thorough neurologic examination is essential for determining the diagnosis. The first goal in diagnosing the source of neonatal hypotonia is to ascertain if it is central or peripheral. Infants who have central hypotonia from a brain source usually have other central deficits. If the child is alert, responds to surroundings, and has normal sleep-wake cycles, the hypotonia is likely to be peripheral in origin. On the other hand, if the child lacks visual tracking, appears lethargic, and has seizures or delayed milestones, it most likely is caused by a central source. The most common forms of neonatal floppiness are central in origin. Disorders of the developing brain that cause hypotonia include hypoxic encephalopathy, intracranial hemorrhage, infection, metabolic disorders, perinatal trauma, hypoglycemia, hypothyroidism, and chromosomal abnormalities. Infants who have central brain disorders present with a decrease in active motor strength compared with passive tone, which actually can be increased markedly. A typical infant would have poor head control and hip/shoulder weakness, but with spastic extremities. Reflexes are either normal or increased, as opposed to most peripheral causes, where the reflexes are decreased significantly.
POSTER NUMERO 38 Translate this page Variants of Guillain-Barré syndome Miller Fisher syndrome, facial diplegia andmultiple cranial nerve palsies Cranial nerve defects in congenital facial palsy http://neurologia.rediris.es/congreso-1/posters/p-38.html
Extractions: La parálisis facial periférica se presenta bilateral simultáneamente en solo el 0.2-2% de los casos. Su aparición bilateral obliga a un estudio profundo, pues infrecuentemente son idiopaticas (Bell), encontrandose mayoritariamente causas estructurales (tumorales), inflamatorias (sarcoidosis, LES), infecciosas (otomastoiditis, meningoencefalitis), y traumáticas. Asimismo, es harto conocida la relación causal entre el virus de Epstein-Barr (VEB) y el síndrome de Guillain-Barré (SBG), en el transcurso del cual la paralisis facial aparece en cerca de la mitad de los casos, pudiendo ser uni o bilateral. Se presenta un caso, hasta ahora escasísimamente descrito en la literatura y, por vez primera en la de lengua castellana, de paralisis facial periférica bilateral como única manifestación neurológica asociada a una mononucleosis infecciosa florida.
Pathologic Quiz Case: A Child With Facial And Proximal Limb Weakness She had facial diplegia, with the left side being more affected than the right. includelimbgirdle muscular dystrophy type 2 and congenital muscular dystrophy http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216
Www.ddhealthinfo.org - Medical Care Information facial and distal), with ptosis, facial diplegia, and elongated facies and Prematurebalding; Testicular atrophy; Mental retardation (especially if congenital); http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3181
Fukuyama Disease Similar to Fukuyamatype congenital muscular dystrophy (FCMD) OMIM facial diplegia,strabismus, progressive joint contractures and kyphoscoliosis are often http://tbase.jax.org/docs/Fcmd.html
Extractions: Click here for OMIM Clinical Synopsis of FCMD Alternative names for Fukuyama-type Congenital Muscular Dystrophy (FCMD) Cerebromuscular Dystrophy, Fukuyama Type; Fukuyama Disease; Micropolygyria With Muscular Dystrophy; Muscular Dystrophy, Congenital Progressive with Mental Retardation; Muscular Dystrophy, Congenital With Central Nervous System Involvement June 2003 features fukutin-deficient chimeric mice generated from embryonic stem cells in which both alleles of Fcmd , the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene [also known as fukutin ], have been disrupted by homologous recombination. The mouse Fcmd gene is ubiquitously expressed in adult tissues. During embryonic development, Fcmd is primarily detected in the central and peripheral nervous systems, exhibiting predominantly high levels of expression in the ventricular zone of proliferating neurons at E13.5 ( Horie et al.
Article By Pam & Gary Scoggin congenital Xlinked recessive type has similar symptoms to the autosonomal Bilateralptosis, facial diplegia, and limitation of eye movements have been noted http://www.mtmrg.org/article.htm
Extractions: by: Gary and Pam Scoggin (The authors are the founders of the Myotubular Myopathy Resource Group. This overview comes from their experiences and review of the cited references. They are not medical professionals.) The general description Myotubular Myopathy , also called Centronuclear Myopathy , consists of three diseases: The discussion below focuses on the Congenital X-Linked Recessive type (31040). Clinical Findings According to the Birth Defects Encyclopedia, "Congenital X-linked recessive type has similar symptoms to the autosonomal recessive type [(e. g., respiratory distress in the newborn period; dysmorphic features such as elongated, thin facies and high-arched palate; muscular weakness diffuse but more severe in a proximal distribution. )] but is more severe with high mortality in infancy. Respiratory distress due to weakness of respiratory muscles is usually the main symptom. The affected infants are weak and hypotonic with poor cry, sucking, and coughing; weak neck muscles, and an inability to swallow. Bilateral ptosis, facial diplegia, and limitation of eye movements have been noted in some infants. Deep tendon reflexes are absent but the infant's response to painful stimuli is normal. Maternal polyhydramnios is often noted, and a history of abortions and neonatal death is frequent. Cardiomyopathy has also been reported. "
Cayler Syndrome characterized by facial paralysis at birth (congenital), due to open during sleepdue to facial nerve and mild stiffness of both lower legs (spastic diplegia). http://www.bchealthguide.org/kbase/nord/nord1037.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the lower lip. The disorder is present at birth (congenital) and is usually first noticed when the infant cries or smiles. Half of the lower lip cannot be drawn down and outward because of the incomplete development (hypoplasia) or absence (agenesis) of the depressor anguli oris muscle.
Directorio De Diagnóstico | Lasalud.com Translate this page impaired suck/swallow, hypoventilation , facial diplegia distinctive histologyoften (eg central core disease congenital Muscular Dystrophy. http://www.lasalud.com/profesionales/visualiza.php?cat=3&idioma=in&niv=3&cod_cla
Evaluation Of Neuromuscular Disease In Children Weakness of facial and bulbar muscles facial diplegia; ptosis; external congenitalmyotonic dystrophy; congenital myopathy; Brachial plexopathy; Mononeuropathy; http://www.emory.edu/PEDS/NEURO/nmdz_jts.htm
Extractions: The traditional approach to the topic of neuromuscular disease is to highlight constituents of the lower motor unit and discuss pathological processes that affect particular components, i.e. anterior horn cells, peripheral nerve, neuromuscular junction and muscle. Although this has proven to be a useful pedagogical strategy, it is not economical, practically or intellectually when dealing with children with neuromuscular disorders. An alternative approach is to take advantage of the fact that certain diseases present stereotypically in terms of the clinical features and the age at which they become manifest. Unlike adults, where the age of onset of symptoms may be of little help in suggesting their etiology, the age of presentation and incidence of particular disease entities in that age group can be used to structure a differential diagnosis appropriate to the age of the child. Weakness of axial muscles
Birth Disorder Information Directory - CO-CZ congenital/Cystic Lymphangioma See (Fetal) Cystic Hygroma. congenitalFacial diplegia List of Sites. congenital Fiber Type Disproportion http://www.bdid.com/defectco.htm
Moebius Syndrome Moebius syndrome is a rare developmental disorder that may have a number of different causes and is characterized by facial paralysis present at birth (congenital). facial nerve development is by http://hw.healthdialog.com/kbase/nord/nord451.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Moebius syndrome is a rare developmental disorder that may have a number of different causes and is characterized by facial paralysis present at birth (congenital). Facial nerve development is absent or diminished causing abnormalities of the facial muscles and jaw. The sixth (abducens) and seventh (facialis) cranial nerves are most often affected. Additional symptoms may include numerous abnormalities of the mouth and face (orofacial region) and malformations of limbs. Mental retardation occurs in approximately 10 percent of cases. Most cases of Moebius syndrome occur randomly, for no apparent reason (sporadic cases).
Blackwell Synergy - Cookie Absent tau. ac. il ). Image Previews. Full Size. Figure 1 A tentshaped mouth, denotingfacial diplegia, in a fetus with congenital myotonic dystrophy . http://www.blackwell-synergy.com/links/doi/10.1046/j.1469-0705.2002.00785.x/abs/
Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
Arquivos De Neuro-Psiquiatria - Moebius syndrome is clinically characterized by congenital nonprogressivefacial diplegia and restricted lateral eyes movements. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000100017&l
Cerebral Palsy and Annotated Research Guide to Internet References (cerebral diplegia; congenitalspastic paralysis; congenital static encephalopathy; Little s disease). P A. P. http://www.icongrouponline.com/health/Cerebral_Palsy_Ph.html
Extractions: E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $48.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with cerebral palsy is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms cerebral diplegia; congenital spastic paralysis; congenital static encephalopathy; Little's disease
