81. Evaluation Of Neuromuscular Disease In Children facial diplegia; ptosis; external ophthalmoplegia; swallowing difficulty Microcephaly and other congenital anomalies push the clinician to think along http://www.pediatrics.emory.edu/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

82. CMGS-Myotonic Dystrophy/14.12.99 muscle wasting, premature balding, gonadal atrophy, cardiac conduction defects.10004000, congenital, hypotonia, mental retardation, facial diplegia http://www.ich.ucl.ac.uk/cmgs/dm99.htm

Myotonic Dystrophy (Dystrophia Myotonica) Myotonic dystrophy (DM) is the commonest muscular dystrophy of adult life and affects 1 in 8,000 people worldwide although there are continental variations in incidence. The incidence varies from 1 in 475 in a region of Quebec to about 1 in 25,000 in European populations and is extremely rare in African populations. It is inherited as an autosomal dominant disease and is a heterogeneous disorder affecting a wide range of systems. The features of DM include: myotonia muscle wasting in the distal extremities, head and neck cataracts hypogonadism frontal balding ECG changes difficulty in swallowing and symptoms of reduced intestinal motility. The disease is broadly classified into three clinical groups: minimally affected or late onset classical adult onset and severe congenital onset . People with the mildest form of DM often go undiagnosed and usually cataracts and minimal muscle involvement are the only visible sign of the condition. The classical form of DM usually develops in early adult life and is characterised by progressive muscle stiffness and weakness. Congenital DM (CDM) is the most severe form of the disease and is almost always inherited from affected mothers. It presents in newborn babies who suffer from respiratory distress, hypotonia, motor and mental retardation and facial diplegia. Diagnosis can be difficult if the family history is not known because muscle wasting may not be apparent and cataracts and myotonia are absent. CDM patients who survive the neonatal period eventually learn to walk but 60-70% are mentally retarded. By the age of 10 they develop myotonia and in adulthood they develop the additional complications associated with adult onset disease.

83. CMGS-Myotonic Dystrophy/23.9.97 congenital DM, a more severe early onset for of DM, was observed by Harper (1975) . motor and mental retardation and facial diplegia. http://www.ich.ucl.ac.uk/cmgs/mytdys.htm

Myotonic Dystrophy or Dystrophia Myotonica (DM) Locus:- 19q13.3 Incidence:- The average incidence of DM is usually quoted as between 1/7,500 and 1/8,000 (Harper, P.S. (1989) Myotonic dystrophy 2nd edn.). However the incidence of DM is not constant throughout the world population. The highest recorded incidence of DM world-wide is in the Saguenay region of the province of Quebec. 600 cases of DM are known in a population of 285,000, an incidence of about 1/475. In a study by Mathieu et al (1990) based in the Saguenay-Lac St. Jean region of Quebec 746 patients in 88 families were all traced back to a couple who settled in New France in 1657. The DM incidence in European populations generally is much lower at about 1/25,000. An even lower incidence was noted by Lotz and Van der Meyden (1985) who didn’t find a single case of DM in an indigenous Negroid or Khoisan person from southern Africa, despite a survey representing a population of more than 30 million. Symptoms:- DM is characterised by myotonia (delayed muscle relaxation following contraction), muscular dystrophy (initially involving the distal muscles of the extremities, then the proximal musculature), cataracts, hypogonadism (due to impaired responsiveness to follicle stimulating hormone), frontal balding and ECG changes. Some DM patients also suffer from Diabetes mellitus (5%), heart block or arrhythmia and adbominal symptoms due to cholelithiasis (25% to 50%). IQ in DM patients decreases as the size of the repeat increases and the age of onset of signs and symptoms decreases (subcortical white matter lesions have been observed at their temporal poles (? only a weak correlation with molecular findings?)).

84. Www.ddhealthinfo.org - Medical Care Information The disease is rarely congenital, most often developing some time after birth . Muscle weakness (esp. facial and distal), with ptosis, facial diplegia, http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3181

85. Article By Pam & Gary Scoggin The discussion below focuses on the congenital XLinked Recessive type (31040) . Bilateral ptosis, facial diplegia, and limitation of eye movements have 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. "

86. FIRSTConsult - Sdfdsf Patients with congenital or acquired Bcell immunodeficiencies have an increasedrisk True facial diplegia is uncommon, even with bulbar poliomyelitis; http://www.firstconsult.com/?action=view_article&id=1014580&type=101&bref=1

87. [DYSPHAGIA] Polyhydramnios facial diplegia, generalized hypotonia, areflexia, atrophy, Acta PaediatrScand 1986 ;7584954 congenital myotonic dystrophy (CMD) is characterized http://list.dysphagia.com/dysphagia/2001-May/msg00370.html

Date Prev Date Next [Chronological] [Thread] ... [Top] [DYSPHAGIA] Polyhydramnios Subject [DYSPHAGIA] Polyhydramnios From eripley@yahoo.com (Irene Campbell-Taylor) Date: Fri, 25 May 2001 10:36:52 -0700 (PDT) http://auctions.yahoo.com/ - To UNSUBSCRIBE from this list, please send an e-mail message to majordomo@medonline.com with the following text as a message: unsubscribe dysphagia - Prev by Date: [DYSPHAGIA] question on EDS and bilateral vocal fold paralysis Next by Date: [DYSPHAGIA] question on EDS and bilateral vocal fold paralysis Index(es): Chronological Thread

88. NeoReviews -- Sign In Page Children who have DS are at high risk for congenital cardiac defects, with severe hypotonia, respiratory distress, and facial weakness or diplegia. http://neoreviews.aappublications.org/cgi/content/full/5/7/e296

HOME HELP CONTACT US SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription. Full Text Cytogenetic and Molecular Diagnoses of Hypotonia in the Newborn Zand and Zackai Neoreviews. PDF Version of this Article Author Disclosures Email this article to a friend E-Letters: Submit a response to this article Similar articles found in: Neoreviews Online Search Medline for articles by: Zand, D. J. Zackai, E. H. Alert me when: new articles cite this article Download to Citation Manager To view this item, select one of the options below: Sign In: Please use your AAP ID Number or Temporary Activation Code for your User Name. User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in NeoReviews Online (from the computer you are currently using) for 30 days for US$30.00.

89. 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 . limbgirdle muscular dystrophy type 2 and congenital muscular dystrophy. http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

90. Archives Of Pathology & Laboratory Medicine: Pathologic Quiz Case: A Child With She had facial diplegia, with the left side being more affected than the right . a dystrophic process and help exclude certain congenital myopathies that http://www.findarticles.com/p/articles/mi_qa3725/is_200306/ai_n9268440

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Jun 2003 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Pathologic quiz case: A child with facial and proximal limb weakness Jun 2003 by Mitra, Sudeshna Prayson, Richard A Friedman, Neil R Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. The patient was a 6-year-old right-handed girl who presented with a slowly progressive drooping of the left side of her mouth of 9 months' duration. Review of photographs and prior medical records revealed that this facial asymmetry had in fact been present since 2 years of age. At age 5, she was treated with a course of oral steroids, based on a clinical diagnosis of Bell palsy. Magnetic resonance imaging of the brain performed at that time was normal. Retrospectively, the patient's mother mentioned having noticed bilateral incomplete eye closure in the patient when she slept since age 1 year. She later had difficulty unrolling "party favors" when she blew on them. There was no history of limb weakness, diplopia, fatigability, dysphagia, or excessive falling. She had never experienced any difficulty in ascending stairs or getting up from a squatting position. Early developmental milestones were normal, and she walked independently before her first birthday.

91. AJNR -- Sign In Page HGPPS is a rare congenital disorder characterized by absence of conjugate Möbius syndrome is characterized by complete or partial facial diplegia http://www.ajnr.org/cgi/content/full/25/6/1046

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to American Journal of Neuroradiology Online. Full Text MR Imaging of Brain-Stem Hypoplasia in Horizontal Gaze Palsy with Progressive Scoliosis Rossi et al. AJNR Am J Neuroradiol. This Article Abstract Figures Only Full Text (PDF) ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Rossi, A. Articles by Tortori-Donati, P. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 7 days for US$10.00 Pay for Admission - You may access all content in American Journal of Neuroradiology Online (from the computer you are currently using) for 7 days for US$25.00.

92. Glossary In Congenital Malformations NeuroLearn NeuroHelp Möbius Syndrome a congenital facial paralysis characterized by facialdiplegia (facial paralysis) typically associated with bilateral abducens palsy http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-M.htm

Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General #Malformation: a morphological defect, including absence, of an organ, or larger region of the body resulting from an intrinsically abnormal developmental process. #Marcus-Gunn phenomenon (jaw-winking) this is a congenital phenomenon that is characterized by elevating or drooping eyelids associated with jaw movement, smilling, swallowing, or speaking; can be acquired or congenital. It is thought to be due to misconnection between the third and fifth, and other cranial nerves. See also anormalous axonal connection (guidance) syndromes, #Macrocephaly (megalocephaly): excessive occipitofrontal circumference without regard to cause or brain size. #Membranis reuniens dorsalis of von Recklinghausen: During closure of the vertebral column, the dorsal part of the spinal cord is first composed of a mass of connective tissue and cartilage. The two lateral processes grow medially and eventually fuse. The membranis renuiens dorsalis of von Recklinghausen is the deepest part of this tissue mass that separates the spinal cord from the overlying connective tissue and epithelium. #Meningocele: Herniation of the meninges through a defect in the cranium or vertebral column.

93. Blackwell Synergy - Cookie Absent Tentshaped mouth as a presenting symptom of congenital myotonic dystrophy mental retardation, feeding difficulties and facial diplegia2. http://www.blackwell-synergy.com/doi/abs/10.1046/j.1469-0705.2002.00785.x

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94. Ophthalmic Pearls - Sept. 2003 Simple congenital ptosis usually is caused by the presence of a hypotonia andfacial diplegia in an infant could be associated with myotonic dystrophy. http://www.aao.org/aao/news/eyenet/pearls/pearls_sept_2003.htm

var gMenuControlID=0; var menus_included = 0; var jsPageAuthorMode = 0; var jsSessionPreviewON = 1; var jsDlgLoader = 'loader.htm'; var jsSiteID = 1; var jsSubSiteID = 144; var kurrentPageID = 29350; document.CS_StaticURL = "http://testaao.sf.aao.org/"; document.CS_DynamicURL = "http://testaao.sf.aao.org/"; September 2003 Feature Patient Compliance: 9 Steps for Success MOC Takes Flight Ophthalmic Pearls Evaluating and Managing Congenital Ptosis Clinical Update Cornea Refractive Retina Other Departments News in Review Morning Rounds Journal Highlights Opinion ... EyeNet Magazine Ophthalmic Pearls / Pediatrics Evaluating and Managing Congenital Ptosis By Kimberly G. Yen, MD, Michael T. Yen, MD, and Richard L. Anderson, MD Edited by Ingrid U. Scott, MD, MPH, and Sharon Fekrat, MD Etiology Simple congenital ptosis usually is caused by the presence of a dystrophic levator muscle. Some cases, however, may also be associated with other etiologies. Syndromes such as congenital fibrosis, blepharophimosis and Moebius syndrome also should be considered. And while myasthenia gravis, chronic progressive external ophthalmoplegia and myotonic dystrophy are rare causes of ptosis in an infant, they are important diseases to recognize because of their systemic manifestations. Myasthenia gravis should be considered in patients who present with concurrent varying motility measurements or if the ptosis worsens markedly throughout the day. Patients with chronic progressive external ophthalmoplegia may present with pigmentary retinopathy and symmetric strabismus. A history of respiratory or feeding difficulties, hypotonia and facial diplegia in an infant could be associated with myotonic dystrophy.

95. Roig Study bullet, congenital Muscular Dystrophy. bullet, Dental Information facial Diplegia7/10 Hypotonia 10/10 Delayed Motor Development 10/10 Myotonia 6/10 http://www.myotonicdystrophy.org/Roig Study.htm

HOME TABLE OF CONTENTS SEARCH DISCUSSION FORUMS ... CHAT ROOM International Myotonic Dystrophy Organization Sections General Information How do I Know if I have Myotonic Dystrophy? Activities that Kids Like Anesthetic Complications ... Workshop on Burden of Muscle Diseases ROIGS STUDY This is one of the few studies that gives long term social information about CMD. It contains some information that can not be found in other studies. This study focuses on long term outcomes. The Principal investigator was Dr. Roig and the Study was performed in a hospital in Barcelona, Spain. It is published in Pediatric Neurology Vol. 11 No 3 Pg. 208-212 It is somewhat technical but if you have a chance get a copy. Summary: "We report the clinical experience of 18 patients with the congenital form of myotonic dystrophy, the majority of whom were diagnosed and monitored from 5-14 years. Prematurity associated with congenital myotonic dystrophy gives rise to the severest clinical manifestations. Among them, respiratory involvement is common and is the leading cause of death in the neonatal period. Weakness and foot deformities secondary to muscle involvement are the predominant clinical features of this group of patients from birth to 3-4 years. Once muscle strength improves learning disabilities and behavioral disturbances become the main clinical problems. All our patients, when tested after 5 years of age had intelligent quotients under 65, clearly below the Intelligent Quotation of their mothers (IQ=80). There is no relationship between the degree of the mothers and the patients disease. No

96. Andy Calder To investigate this issue, we studied a group of participants with a rare congenitaldisorder that causes facial diplegia (Möbius Syndrome) (Calder, Keane, http://www.mrc-cbu.cam.ac.uk/personal/andy.calder/neuropsychology.shtml

Search for: Neuropsychology of emotion In addition to the researchers mentioned in each section, a number of studies have also been conducted in collaboration with Andy Young at the University of York, Dave Perrett at the University of St Andrews, and Andrew Lawrence and Jill Keane here at the CBU. Figure 1: Research summarised below discusses the involvement of the amygdala in fear processing and insula/basal ganglia regions in disgust processing. This graphic illustrates the position of these structures in the brain. Impaired recognition of fear and anger following bilateral amygdala damage A collaborative project with Sophie Scott (University College London), addressed the contribution of the amygdala to the recognition of emotion from vocal cues (Scott et al., 1997) in case DR. Results showed that DR demonstrates an identical pattern in the vocal domain (i.e., impaired recognition of vocal signals of fear and anger), supporting the view that the amygdala contributes to the recognition of these emotions across different sensory modalities (Calder et al., 2001b). This proposal is also supported by a collaborative functional imaging (fMRI) project with Mary Phillips (Institute of Psychiatry) (Phillips et al., 1998), which showed enhanced amygdala signals for facial and vocal signals of fear (see below).

97. POSTER NUMERO 38 A case of facial diplegia associated with acute bilateral otitiis media . 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.

98. DermAtlas: Online Dermatology Image Library Dermatology Image,phytophotodermatit Comments, This healthy adolescent was born with a giant congenital pigmented The hemangima improved, but she developed spastic diplegia before the http://dermatlas.med.jhmi.edu/derm/result.cfm?Pattern=1010356867

99. List Of Neurological Disorders: Information From Answers.com Coffin Lowry syndrome; Coma, including Persistent Vegetative State; Congenitalfacial diplegia; Corticobasal degeneration; Cranial arteritis http://www.answers.com/topic/list-of-neurological-disorders

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of neurological disorders Wikipedia List of neurological disorders This is a list of major and frequently observed neurological disorders (e.g. Alzheimer's disease ), symptoms (e.g. back pain ), signs (e.g. aphasia ) and syndromes (e.g. Aicardi syndrome Contents: Top A B C ... Z A Acquired Epileptiform Aphasia Acute Disseminated Encephalomyelitis Adrenoleukodystrophy Agenesis of the corpus callosum Agnosia ... Alzheimer's disease Amyotrophic lateral sclerosis (see Motor Neurone Disease Anencephaly Angelman syndrome Angiomatosis Anoxia Aphasia Apraxia Arachnoid cyst s Arachnoiditis Arnold-Chiari malformation Arteriovenous malformation Asperger's syndrome Ataxia Telangiectasia Attention Deficit Hyperactivity Disorder Autism Auditory processing disorder Autonomic Dysfunction B Back Pain Batten disease Behcet's disease Bell's palsy Benign Essential Blepharospasm Benign Focal Amyotrophy Benign Intracranial Hypertension BFPP Binswanger's disease Blepharospasm Bloch-Sulzberger syndrome Brachial plexus injury Brain abscess Brain injury Brain tumor Spinal tumor ... Brown-Sequard syndrome C Canavan disease Carpal tunnel syndrome (CTS) Causalgia Central pain syndrome Central pontine myelinolysis Cephalic disorder Cerebral aneurysm Cerebral arteriosclerosis Cerebral atrophy Cerebral gigantism Cerebral palsy Charcot-Marie-Tooth disease Chiari malformation Chorea Chronic inflammatory demyelinating polyneuropathy

100. Society Of Clinical Psychiatrists A 22 yr. old man, with a bizarre appearance caused by congenital facialdiplegia (Moebius syndrome), appeared before the Crown Court charged with arson. http://www.scpnet.com/paper2_8.htm

Home A New Millenium Suspended Doctors Feedback ... Private Care Directory Happy Endings, Three forensic case studies P Grahame Woolf FRCPsych Retirement is a time when the old tend to reminisce, and members of the Society of Clinical Psychiatrists, which is independent, informal and seeks to be complementary to the Royal College of Psychiatrists, may welcome the opportunity to share experiences of particular interest. Northern Irish juvenile homicide My interest in the issue of borderline diminished responsibility was fired by experience as an expert witness in a murder case involving the late Dr Peter Scott, at that time chairman of the Royal College's Forensic Psychiatry Committee in which I then served. A young man from Northern Ireland, sent away from the troubles to live with relations in London, bought a gun in a pub, with the purpose to kill his sister's husband, who had been giving her a hard time. He was charged with murder and the prospects of a successful defence were unpropitious.

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