61. TheFetus.net - Myotonic Dystrophy-Raúl Martínez, José G. Andrade congenital myotonic dystrophy (CMD) is a disease manifested by hypotonia, muscleatrophy, mental retardation, feeding difficulties and facial diplegia. http://www.thefetus.net/page.php?id=1157

62. 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

63. 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

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 ...

64. 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

65. 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

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Harper, P. Alert me when: new articles cite this article Download to Citation Manager PAPERS Congenital myotonic dystrophy in Britain. I. Clinical aspects PS Harper 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.

66. 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

Pediatrics in Review Volume 17 • Number 3 • March 1996 IN BRIEF Hypotonia in Infants 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. Central Hypotonia 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.

67. 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

POSTER NUMERO 38 TITULO PARALISIS FACIAL BILATERAL AISLADA SECUNDARIA A VIRUS DE EPSTEIN-BARR. REVISIÓN DE LA LITERATURA. AUTORES M Ferrero, J Marcos*, D Sevillano, C Tabernero, LE Clavería. Hospital General de Segovia. Sº de Neurología y (*) Sº de Medicina Interna. Dirección de correo electrónico: mferreror@meditex.es TITULO AUTORES RESUMEN ... VOLVER AL INDICE DE POSTERS RESUMEN Introducción y objetivos: 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.

68. 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

69. 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

70. 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

Current Feature in TBASE by Anna V. Anagnostopoulos JUNE 2003 The Fcmd Knockout: A Mouse Model of Human Fukuyama-type Congenital Muscular Dystrophy Click here to view axial images of a 5 month-old female with a diagnosis of Fukuyama disease 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.

71. 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

Statistics Information That We Need Scoliosis Glossary ... About the Resource Group An overview of Myotubular Myopathy 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: Congenital X-Linked Recessive Type (MIM No. 31040) Congenital Autosomal Recessive Type (25520) Autosomal Dominant Type (16015) 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. "

72. 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

document.write(''); var hwPrint=1; var hwDocHWID="nord1037"; var hwDocTitle="Cayler Syndrome"; var hwRank="1"; var hwSectionHWID="nord1037"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Cayler Syndrome Important 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. Synonyms Hypoplasia of the Depressor Anguli Oris Muscle with Cardiac Defects Asymmetric Crying Facies with Cardiac Defects ACF with Cardiac Defects Cayler Cardiofacial Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Asymmetric Crying Facies Congenital Facial Palsy Moebius Syndrome Ventricular Septal Defects Atrial Septal Defects Tetralogy of Fallot General Discussion 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.

73. 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

74. 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

Emory Pediatric Neurology Teaching Syllabus Return to the Table of Contents Evaluation of Neuromuscular Disease in Children John T. Sladky, M.D. Professor of Pediatrics and Neurology Emory University School of Medicine Neuromuscular Disease in Children presented at the AAN 1999 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. Neuromuscular Disorders Presenting at Birth Clinical Features of Neuromuscular Disorders Presenting at Birth Hypotonia at rest No improvement in muscle tone with stimulation Weakness of appendicular muscles diminished grasp (palmar and plantar) inability to raise limbs against gravity (or resistance) Weakness of axial muscles

75. Chromosome 13 156600, MICROCORIA, congenital, MCOR; MIOSIS, congenital. 13q31q32. 157900,MOEBIUS SYNDROME 1; MBS1, MBS; facial diplegia, congenital. 13q12.2-q13. http://www.biochem.ucl.ac.uk/bsm/humgen/chr_13_001.html

Chromosome 13 List of disease-related genes from OMIM: OMIM code AV SWISS-PROT code(s) Closest PDB Gene name Associated disorder(s) Gene locus SOLUTE CARRIER FAMILY 7, MEMBER 1; SLC7A1 AMINO ACID TRANSPORTER, CATIONIC 1; ATRC CATIONIC AMINO ACID TRANSPORTER 1; HCAT1 GASTROESOPHAGEAL REFLUX GER BARRETT METAPLASIA BARRETT ESOPHAGUS B-CELL MALIGNANCY, LOW-GRADE DISRUPTED IN B-CELL MALIGNANCY; DBM LEUKEMIA, CHRONIC LYMPHOCYTIC, B-CELL BCLL COLLAGEN, TYPE IV, ALPHA-2; COL4A2 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-2 C COLLAGEN, TYPE IV, ALPHA-1; COL4A1 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-1 C GAP JUNCTION PROTEIN, BETA-2; GJB2 GAP JUNCTION PROTEIN, 26-KD CONNEXIN 26; CX26 GAP JUNCTION PROTEIN, ALPHA-3; GJA3 GAP JUNCTION PROTEIN, 46-KD CONNEXIN 46; CX46 ENDOTHELIN RECEPTOR, TYPE B; EDNRB ENDOTHELIN RECEPTOR, NONSELECTIVE TYPE; ETRB ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHIN UV-DAMAGE, EXCISION REPAIR OF, UV-135; U ULTRAVIOLET SENSITIVITY, MOUSE, COMPLEME

76. 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

HOME Co-Cy COACH Syndrome See Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis (COACH) Syndrome Coarctation of (the) Aorta (CoA) List of Sites Coats' Disease (Congenital Retinal Telangiectasia, Exudative Retinitis, Leber Miliary Aneurysm) Coats disease Cobb Syndrome Syndromes associated with AVMs Cocaine Antenatal Infection See Fetal Cocaine Syndrome Related Books Cochin Jewish Disorder (Haim Munk Syndrome, Keratosis Palmoplantaris Periodontopathia) Keratosis palmoplantaris periodontopathia KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS Cockayne Syndrome List of Sites COD-MD Syndrome See Walker Warburg Syndrome CODAS Syndrome (Cerebrooculodentoauriculoskeletal Syndrome) Cerebro oculo dento auriculo skeletal syndrome CODAS SYNDROME Coffin Syndrome (Arthritis Short Stature Deafness) Coffin syndrome Coffin-Lowry Syndrome List of Sites Coffin Siris Syndrome (Fifth Digit Syndrome) Coffin siris syndrome FIFTH DIGIT SYNDROME COFS Syndrome See Cerebrooculofacioskeletal (COFS) Syndrome Cohen Hayden Syndrome (Proteus-Like Syndrome with Mental Retardation and Eye Defects) Cohen hayden syndrome Cohen Lockood Wyborney Syndrome (Blepharophimosis Ptosis Syndactyly Mental Retardation) blepharophimosis ptosis syndactyly mental retardation Cohen Syndrome List of Sites Colavita Kozlowski Syndrome (Short Limb Dwarf, Lethal Colavita Kozlowski Type)

77. 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

document.write(''); var hwPrint=1; var hwDocHWID="nord451"; var hwDocTitle="Moebius Syndrome"; var hwRank="1"; var hwSectionHWID="nord451"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_003_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Moebius Syndrome Important 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. Synonyms Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Mobius Syndrome Moebieus Sequence Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Facioscapulohumeral muscular dystrophy Oromandibular-limb hypogenesis syndromes Pierre-Robin sequence Poland-Moebius syndrome General Discussion 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).

78. 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/

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79. 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

80. 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

ICON Health Publications Official Health Sourcebooks CEREBRAL PALSY A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (cerebral diplegia; congenital spastic paralysis; congenital static encephalopathy; Little's disease) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days 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

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