Dandy Walker Malformation D. Blackfan 18831941, American physician), consisting of a triad of abnormalities;complete or partial agenesis of the cerebellar vermis, cystic dilatation of http://www.amershamhealth.com/medcyclopaedia/Volume VII/DANDY WALKER MALFORMATI
Extractions: *For Medical Professionals only, registration required Dandy walker malformation, In classical Dandy-Walker malformation hydrocephalus is considered a complication rather than part of the malformation and though unusual at birth it is present in 75% of patients by 3 months of age and in 90% of patients at the time of diagnosis. The malformation occurs in 1 per 25,000-30,000 births. Walker Warburg syndrome , Dekaban syndrome, cerebro-oculo-muscular syndrome and vermian hypoplasia with colobomata and hepatic fibrosis.Those genetic syndromes in which vermian agenesis is an occasional feature include Meckel-Gruber, Mohr, orofacial digital syndrome type II, Coffin Siris syndrome Smith Lemli Opitz syndrome Ellis van Creveld syndrome Ruvalcaba Myhere Smith syndrome .Other non-Mendelian syndromes in which vermian agenesis may be a feature include Dandy-Walker cyst with facial angioma
Dysgenesis, Cerebellar total or subtotal agenesis. lateral aplasia. median aplasia. hypoplasia. Near totalaplasia of the cerebellar vermis, dysplasis and heterotopias of cerebellar http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/DYSGENESIS CEREBELLAR.a
Extractions: *For Medical Professionals only, registration required Dysgenesis, cerebellar, congenital abnormal formation of the cerebellum and manifested in different forms and degrees of severity: total or subtotal agenesis lateral aplasia median aplasia hypoplasia Near total aplasia of the cerebellar vermis, dysplasis and heterotopias of cerebellar nuclei, absence of pyramidal decussation, anomalies of the inferior olivary nuclei are found in Jouberts syndrome Rhombencephalosynapsis is characterized by absence of the cerebellar vermis and fusion of the cerebellar hemispheres. Lhermitte Duclos disease is a cerebellar dysplasia characterized by thickening of the cerebellar folia due to a cellular disorganization with hypertrophied granula cell neurons and axonal hypermyelination in the molecular layer (dysplastic gangliocytoma).
OBGYN.net Ultrasound Section - May Case Study and large beaked nose, cerebellar vermis hypoplasia, unilateral hydronephrosis (AP renal pelvis measurement = 1.4 cm), suspected agenesis of corpus callosum. http://www.obgyn.net/us/cotm/9805/cotm9805.htm
Extractions: Baylor College of Medicine, Houston, TX Seckel Syndrome is a rare (<1:10,000) constellation of malformations, presumably inherited as an autosomal-recessive trait. The primary characteristic features of Seckel Syndrome (SS) include; severe intrauterine growth restriction, microcephaly, orofacial dysmorphology with characteristic "bird-headed" appearance, and mental retardation. Case Report The patient is a 43 year old gravida 5, para 3, with a history of a child diagnosed with SS . The effected child died at the age of three years secondary to respiratory complications sustained under general anesthesia during a minor surgical procedure. The patient presented for ultrasound evaluation and genetic amniocentesis at 15.0 weeks gestation by menstrual history. Ultrasound demonstrated a normal appearing female fetus. Fetal biometry was consistent with 15.0 weeks gestation, with all parameters equal to the mean for gestational age. Menstrual dates were therefore confirmed as accurate. Genetic amniocentesis was performed without complications. In light of the patient's history of an SS effected child, repeat ultrasound evaluation were recommended to monitor fetal growth. Chromosomal analysis showed a normal 46,XX karyotype. Subsequent ultrasound examinations are summarized below.
OBGYN.net Ultrasound - January 1999 Case Of The Month 2 DWM covers a spectrum of abnormalities of the cerebellum that range from an increasedindentation of the cerebellar vermis to complete agenesis of the vermis http://www.obgyn.net/us/cotm/9901/cotm_9901.htm
Extractions: Little Rock, Arkansas, USA The physician's (HBC) review of the images found hydrocephaly with an abnormal cranium. The cephalic measurements were considered relatively enlarged. Images of the posterior fossa demonstrated dysgenesis of the cerebellar vermis, suggesting a Dandy-Walker malformation. No other anomalies were seen on this examination. The amniotic fluid was normal.
Catalogue Of Anomalies Diagnosable By Ultrasound, Part Of A 1A1V (cord) Achondroplasia Acondrogenesis agenesis of the Corpus Callosum agenesisof the cerebellar vermis Amniotic band syndrome Anencephaly (1) Anencephaly http://www.ob-ultrasound.net/anomaly.html
Paediatric Database THE CORPUS CALLOSUM; agenesis OF THE cerebellar vermis; AICARDI SYNDROME;ALAGILLE SYNDROME; ALEXANDER'S DISEASE; ALLERGIC DISEASE; ALPORT http://freeortho.com/syndromes3.html
Extractions: The Pediatric Database (PEDBASE) contains descriptions of over 550 childhood illnesses and has been on the Internet since November 15, 1995. Beginning in November of 1996, new diseases will be added and revisions made to existing files. Information on each disorder in this Database has been obtained from at least 3 sources including Nelson Textbook of Pediatrics (14th and 15th editions), the Birth Defects Encyclopedia (1990 and 1994 editions) and from at least one other source (journal articles, review articles, textbooks). One may download the entire Database as Shareware . An editable Registered version is also available through the author. A B C D ... P Q R S T U ... ZELLWEGER'S SYNDROME
RobertHolson Joubert Syndrome, YES agenesis of vermis sometimes expressed as autism. Down'sSyndrome, ? ANIMALS MODELS OF AUTISM INVOLVING cerebellar DAMAGE. http://cdd.unm.edu/aut/RobertHolson.htm
Dandy-Walker Syndrome An article about DandyWalker syndrome which is a congenital brain malformation involving the fourth Category Health Conditions and Diseases Dandy Walker Syndrome partial or complete) of the cerebellar vermis (the narrow and/or signs of cerebellardysfunction such as system structural anomalies including agenesis of the http://healthlink.mcw.edu/article/921724673.html
Extractions: Subscribe now >> Dandy-Walker syndrome is a congenital brain malformation involving the fourth ventricle and cerebellum. It is defined as an enlargement of the fourth ventricle, an absence (partial or complete) of the cerebellar vermis (the narrow middle area between the two cerebral hemispheres), and cyst formation in the posterior fossa (the internal base of the skull). Hydrocephalus (increased intracranial pressure) may also be present. Symptoms which often occur in early infancy include slow motor development and progressive macrocrania (an abnormally enlarged skull). In older children symptoms of increased intracranial pressure such as irritability, vomiting and convulsions, and/or signs of cerebellar dysfunction such as ataxia and nystagmus (jerky eyes) may occur. The syndrome can appear dramatically or be totally asymptomatic. Other symptoms include increased head circumference, bulging occiput (the back of the head), cranial nerve dysfunction, and abnormal breathing patterns.
Baylor Neurology Case Of The Month Dennis R. Mosier, MD, PhD. References Joubert M, Eisenring JJ,Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. http://www.bcm.tmc.edu/neurol/challeng/pat59/summary.html
Extractions: This 6 week old boy experienced intermittent severe tachypnea and episodic central apnea since birth. On examination, he exhibited axial hypotonia and intermittently disconjugate eye movements, but no evidence of facial, cranial, or limb dysmorphism. No infectious, metabolic, or cardiopulmonary cause of tachypnea was identified on screening tests. No history of familial consanguinity or congenital abnormalities was elicited. On neuroimaging studies, absence of the cerebellar vermis was evident. The superior cerebellar peduncles were arrayed perpendicular to the brainstem, together with accentuated depth of the interpeduncular fossa, giving a characteristic "molar tooth" sign on axial images. These clinical and radiographic findings are highly suggestive of the syndrome of cerebellar vermian dysgenesis described by Joubert et al. (1969).
Extractions: Top Sites this Week Science: Middle School Physical Science Resource Center Math: Project Interactive Social Science: America at War - Time for Kids Language Arts: International Children's Digital Library Project: Stay Safe Online Lesson Plan: Ready.gov from the Department of Homeland Security Top Sites Archives Educational News Schools Seek to Reassure in Wartime Special Education May Get Overhaul Make-A-Wish Foundation Helps Sick Student Go to College privacy Diseases Subcategories: AIDS and HIV Most Popular Health Nutrition and Sports Searches: Diabeties Parenting Sports History Home ... Diseases Web Sites (11-20 of 24): ACID/ALKALI INGESTION - Pediatric Database (PEDBASE) Discipline: EMG Last Updated: 12/27/94 ACID/ALKALI INGESTION DEFINITION: An acute ingestion of acidic or alkaline agents. EPIDEMIOLOGY: incidence: ? age of onset: any risk factors: suicidal ideation PATHOGENESIS: 1. Alkaline
CNS MALFORMATIONS u DandyWalker malformation - enlarged posterior fossa, high position of the tentorium,hypogenesis or agenesis of the cerebellar vermis, cystic dilatation of http://128.100.71.82/neurosurgery/jay.html
Cerebellar Agenesis It is the near or total absence of cerebellum that is called cerebellar agenesis.Also, what about the cerebellar vermis (connecting tissue between the two http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/cerebellar
EMedicine - Meckel-Gruber Syndrome : Article By Suzanne M Carter, MS MeckelGruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up.Category Health Conditions and Diseases Meckel-Gruber Syndrome This complex dysembryogenesis includes a central cyst communicating with the fourthventricle, agenesis of vermis, and splaying of the cerebellar hemispheres. http://www.emedicine.com/ped/topic1390.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: January 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: MKS, dysencephalia splanchnocystica, Gruber syndrome, Meckel syndrome type 1, MKS1, MES AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Editor(s): Christian J Renner, MD
ACR Learning File Web been described as an anomaly consisting of an enlarged posterior fossa with a hightentorium, dysgenesis or agenesis of the cerebellar vermis, and a cystic http://www.learningfile.com/learning_file/viewcase.php?section=nu&case_num=710
Poster III - Newborn The anomalies detected were neural tube defects (n=6), holoprosencephaly (n=3),cleft lip (n=4), cleft palate (n=1), agenesis of the cerebellar vermis (n=2 http://www.pediatric-neurology-paris.org/CongresSENP/html/poster_iii_-_newborn.h
Extractions: Romano A., Mansi G., De Maio C., Sarno M.,Del Giudice E.., Paludetto R., Department of Pediatrics, Federico II, Naples, Italy Background: The outcome of preterm newborns (PtI) without brain damage is still a subject for study. We compared the psychomotor development (PMD) of 20 preterm (PtI) to 20 full term newborns (FtI) in good health. Material and Methods: The neurological evaluation (NE) (by Prechtl and Touwen ) and PMD (by Griffith Mental Developmental Scales and WIPPSI) were performed at 3, 6, 9, 12, 18, 24 and 36 months of postconceptional age and at 5 years of age.A statistical analysis of results was done by Wilcoxon test.
US In Fetal CNS Abnormality ? ventriculomegaly, corpus callosum agenesis, neuronal migrationdisorders ? caudal aspect of the cerebellar vermis deficiency. http://www.kjsultrasound.co.kr/1/3.htm
Extractions: 3 standard views Thalamic view : BPD, OFD landmark - cavum septi pellucidi, thalamus, 3 rd ventricle, ambient cistern Ventricular view : lateral ventricle slightly cranial to thalamic view Cerebellar view : AP diameter of cisterna magna, cerebellar width landmark - cerebellar hemisphere, cisternal magna, thalamus, cavum septi pellucidi rotate the thalamic view into the posterior fossa to show cerebellar hemisphere Measuring the Lateral Ventricles and Cisterna Magna Lateral Ventricle: lateral ventricle measurement Ventricular view atrium inner diameter upper normal range upper normal range ). Choroid plexus ventricular wall ventricle size choroid plexus-ventricle wall Cisterna Magna: Cerebellar view midline cerebellar vermis occipital bone inner table AP diameter Ventriculomegaly and Hydrocephalus
Ultrasound In Obstetrics And Gynecology 206 Prenatal diagnosis of isolated unilateral pulmonary agenesis in the second 208Transvaginal sonographic appearance of the cerebellar vermis at 1416 weeks http://www.ultrason.com/sommdessomm/uog02-02.htm
Extractions: February 2002 -Volume 19 Issue 2 Editorial Three-dimensional ultrasound in gynecology: a critical evaluation D. Jurkovic Opinion Timing the delivery of the preterm severely growth-restricted fetus: venous Doppler, cardiotocography or the biophysical profile? Original Papers The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia D . Rotten, J. M. Levaillant, H. Martinez, H. Ducoule Le pointe, É. Vicaut Fetal ear length measurement: a useful predictor of aneuploidy? U. Chitkara, L. Lee, J. W. Oehlert, D. A. Bloch, R. H. Holbrook, Y. Y. El-sayed, M. L. Druzin The development of the fetal vermis: an in-utero sonographic evaluation Y. Zalel, D. S. Seidman, N. Brand, S. Lipitz, R. Achiron Temporal sequence of abnormal Doppler changes in the peripheral and central circulatory systems of the severely growth-restricted fetus E. Ferrazzi, M. Bozzo, S. Rigano, M. Bellotti, A. Morabito, G. Pardi, F. C. Battaglia, H. L. Galan
NDTA - Education when G. was 8 months old was the diagnosis of agenesis of the vermis of the ruledout and the diagnosis of simple nonprogressive cerebellar ataxic cerebral http://www.ndta.org/edu/parentfamily.asp
Extractions: Click above for more information Description, Assessment and Treatment Progression of a Child with Ataxic Cerebral Palsy: A Single Subject Case Study: Part I Janet M. Wilson Howle, PT, MACT This paper has two goals. First, it describes the developmental patterns of a child with ataxic C.P. relating pathophysiology to sensorimotor impairments and functional limitations. Second, it demonstrates the effectiveness of the physical therapy program specifically designed for this child. Introduction The model for assessment used in this case is adapted from the Hypothesis-Oriented Algorithm for Clinicians (HOAC). This model provides a systematic method for clinical decision making that is independent of methods of assessment or treatment philosophy. Within this model, the assessment data is classified following the disablement model developed by the National Center for Medical Rehabilitation Research (NCMRR). (4) This model has recently been accepted as standards of practice by the NDT Instructors. (5) I. Data Collection-Pertinent Medical and Developmental History
Special Child: Disorder Zone Archives - Dandy-Walker Syndrome or complete) of the cerebellar vermis (area between the cerebellar dysfunction causingataxia and nystagmus; Bulging Abnormal breathing patterns; agenesis of the http://www.specialchild.com/archives/dz-021.html
Extractions: Cheyanne Hathaway Introduction Dandy-Walker syndrome (DWS) is a congenital (present at birth) brain malformation typically involving the fourth ventricle and the cerebellum. The disorder was first described in 1914 by W. Dandy and K. Blackfan and was designated as Dandy-Walker syndrome in 1954 by C. Benda, who also reported familial occurrence. DWS occurs in one out of every 25,000 live births and occurs more frequently in females than males. Features and Characteristics The following characteristics have been seen in children with Dandy-Walker syndrome: Enlargement of the fourth ventricle Absence (partial or complete) of the cerebellar vermis (area between the two cerebral hemispheres) Cyst formation in the posterior fossa (internal base of the skull) Slow motor development in early infancy Progressive macrocrania (abnormally enlarged skull) Hydrocephalus Seizures Intracranial pressure in older children, causing irritability, vomiting, and convulsions Cerebellar dysfunction causing ataxia and nystagmus Bulging occiput (back of head) Cranial nerve dysfunction Abnormal breathing patterns Agenesis of the corpus callosum Malformations of the face, limbs, digits, and heart
