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         Cerebellar Vermis Agenesis:     more detail
  1. Defective development of the cerebellar vermis (partial agenesis) in a child: With 17 figures in the text (Norsk videnskaps-akademi i Oslo. Skrifter. I. Mat.-naturv. klasse, 1945) by Alf Brodal, 1945

41. 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
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*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

42. 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
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*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).
GS
The Encyclopaedia of Medical Imaging Volume VI:1
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43. 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
OBGYN.net Ultrasound: Case of the Month May 1998
Seckel Syndrome: A Case Study of Prenatal Sonographic Diagnosis
by Victoria Alderman, MA, RDMS OBGYN.net Ultrasound Advisory Board Member
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.

44. 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
Walker-Warburg Syndrome
Case of the Month, January, 1999
Ultrasound @OBGYN.net: http://www.obgyn.net/us/us.htm
By:
Terry J. DuBose, M.S., RDMS, FAIUM
, Director, Diagnostic Medical Sonography
Barbara A. Karczeski, M.S., CGC, Arkansas Reproductive Genetics Program
University of Arkansas for Medical Sciences
Little Rock, Arkansas, USA
Case Study:
This is a case of a 19-year-old female referred to the high-risk obstetrical laboratory for evaluation because of an abnormal sonogram that indicated cerebral ventriculomegaly. A series of sonographic examinations were performed over a three-month period. The current case will focus on the images of the third examination; however, the age range analysis will use the results of four examinations for comparison. A Certified Genetics Counselor (BAK) met with the patient prior to and after the examination.
The current examination was performed at 31.1 weeks after the reported LMP by a registered sonographer (TJD) using modern equipment. The transducer used was a curvilinear with selectable 3.5 or 4.0 MHz frequencies. A complete examination was done, producing multiple planes of view of the major organs. The sonographic images were of a good quality and the examination was considered diagnostic.
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.

45. 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
Sorry, your browser doesn't suppor Java.
A Catalogue of Web pages describing particular abnormalities diagnosable by ultrasound
1A1V (cord)

Achondroplasia

Acondrogenesis

Agenesis of the Corpus Callosum
...
Spina bifida(1)
. See Myelomeningocele
Spina Bifida(2)

Short rib-polydactyl syndrome

Thanatophoric dwarfism
...
Ventricular septal defect A good web page on congenital pathology diagnosable by ultrasound can be found here at the Perinatology Network There are several web pages which may be of interest to readers of this page : Prescribing in Pregnancy drug teratogenicity Teratology a Primer If you have come across any good web page discussing a particular anomaly, please let me know. My mailbox Use the Alta Vista Search Engine to locate the abnormality you want to find, if it's not on the list : Search the Web Usenet and Display the Results in Standard Form in Compact Form in Detailed Form Back to top Back to Obstetric Ultrasound Back to Ultrasound FAQ page

46. 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
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
  • 47. 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
    THE ROLE OF ANIMAL RESEARCH IN UNDERSTANDING AND TREATING AUTISM
    R. Robert Holson, Ph.D. Department of Psychology New Mexico Institute of Mining and Technology Socorro, NM 87801 rholson@nmt.edu
    THE CURRENT SITUATION
    Animal research is under-represented in autism research
    Of the most recent 400 papers on autism listed in Medline, 5 used animals. ...
    Home

    48. 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
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    Dandy-Walker Syndrome
    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.

    49. 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
    Patient #59
    Summary and Discussion
    J. Gavin Norris, MD, PhD
    Diagnosis:
    Joubert syndrome Summary:
    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).
    Differential Diagnosis:
    Causes of tachypneic-apneic respiratory patterns in association with cerebellar abnormalities include the Rett, Joubert, Mohr, and Dandy-Walker syndromes.

    50. Education Planet Health Nutrition And Sports,Medical Specialties,Pediatrics,Dise
    16. agenesis OF THE cerebellar vermis Pediatric Database (PEDBASE) DisciplineCNS Last Updated 5/21/94 agenesis OF THE cerebellar vermis DEFINITION A
    http://www.educationplanet.com/search/Health_Nutrition_and_Sports/Medical_Specia
    Mar. 30, 2003 15:48 PST
    Search top educational sites, lessons, supplies and more! Membership Log In User Name: Password: Strengthen Reading Comprehension Reading comprehension software that gets results.
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    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
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    51. 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
    CNS MALFORMATIONS
    Venita Jay, MD
    EARLY BRAIN DEVELOPMENT
    u About the 15th day of life, ectodermal cells on the surface of the embryo proliferate to form a plate of tissue, the “ primitive streak ”. Rapidly proliferating group of cells, the “ Hensen’s node ” form at one end (cephalic end).
    u From Hensen’s node, cells that form the notochord migrate rostrally and induce differentiation of the dorsal midline ectoderm into “ neuroectoderm
    u The plate like condensation of the neuroectoderm is the “ neural plate
    u At 17 days, lateral aspects of the neural plate thicken and neural folds bend medially, meeting in the midline around 20 days.
    u As the neural tube closes, the neuroectoderm which will form the CNS separates from the overlying ectoderm, which will become the skin.
    EARLY BRAIN DEVELOPMENT
    u At the time of closure of the anterior neuropore, three dilatations or vesicles develop in the rostral cavity of the neural tube: prosencephalon (forebrain), mesencephalon (midbrain), and rhombencephalon (hindbrain).
    u Rhombencephalon separated from the mesencephalon by the cephalic flexure and from the cervical cord by the cervical flexure
    u Prosencephalon is divided into the diencephalon (thalamus, hypothalamus, globus pallidus) and

    52. 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
    cerebellar agenesis
    This response submitted by Sharon Gretz on 4/8/96. Author's Email: Hi, I would love to correspond with you. My four year old son has cerebellar agenesis.
    Some of the info from NORD on cerebellar issues is wrong! The agenesis, if it is
    an isolated problem, and not part of a syndrome, etc. is likely not genetic.
    It is more likely caused by an event in pregnancy, for instance viral attack, etc.
    Usually, if some of the cerebellum is present it is called cerebellar hypoplasia
    (underdeveloped). 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
    cerebellar hemispheres)? Please email me as I would love to talk to you about
    this and learn more about your daughter. You can reach me at: sharong@nauticom.net Next Article
    Return to Main Article
    Article complete. Click HERE to return to the Neurology Web-Forum Menu.

    53. 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
    (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
    Meckel-Gruber Syndrome
    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

    54. 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

    55. 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
    Programme final
    à télécharger Posters sessions
    du 1 er au 4 décembre 2002 POSTER SESSION III
    Newborn (P32-P39)
    Chairs: Sophie Kulakowski (Varsovie), Francisco Lopez Pison (Sabadell)
    Authors present: Tuesday December 3, 2002

    The value of somatosensory evoked potentials compared to cranial ultrasound scan in early detection of neuromotor impairment in newborns at risk
    The psychomotor development of very low birth weight preterm newborn: a 5 year follow up

    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.
    Anomalies of the central nervous system detected prenatally using magnetic resonance imaging: dorsal and ventral induction disorders and syndromic forms.

    56. 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
    ll US in Fetal CNS Abnormality ll
    CNS abnormality´Â ÈçÇÏ°í, 1000¸íÀÇ livebirthsÁß 1.4-1.6¸í, stillbirthsÁß 3%-6%¸¦
    Developmental Anatomy

    fetal brain rhombencephalic cavity posterior fossa midline large cyst 4th ventricle . Cranial bone ossification . First trimester lateral ventricle choroid plexus
    Scanning Technique

    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
    Ventriculomegaly dilated ventricle , hydrocephalus dilated ventricle due to increased pressure
    Main causes of ventriculomegaly:
  • Obstruction to ourflow of CSF: spina bifida associated with Chiari II malformation, encephalocele, aqueduct stenosis, intracranial neoplasm, cyst, achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, arachnoiditis after hemorrhage or infection.
  • 57. 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
    Ultrasound in Obstetrics and Gynecology
    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

    58. Birth Defects Genetics Teratology Other Key Information Sources
    by ultrasound Achondroplasia … Acondrogenesis … agenesis of the Corpus Callosum… agenesis of the cerebellar vermis … Amniotic band syndrome
    http://ibis-birthdefects.org/start/inform.htm
    Tips for printing Birth Defects - Genetics - Teratology
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    59. 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
    Neuro-Developmental Treatment Association
    Education

    Network Articles
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    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
    Assessment Process
    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

    60. 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
    Disorder Zone
    Archives Dandy-Walker Syndrome
    Marlei Malchak
    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

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