Symptoma

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Braddock-Jones-Superneau syndrome

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

ORPHA:1538 Synonym(s): Braddock-Jones-Superneau syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy ICD-10: Q03.1 Q75.0 OMIM: 123155 UMLS: - MeSH: - GARD: 998 MedDRA: - The documents contained in this web site are presented for [orpha.net]

Either an ultrasound or an MRI of the newborn’s head will demonstrate if hydrocephalus is present. [fetalhealthfoundation.org]

This period is characterized by frequent changes of presentations. The fetuses in breech presentation during this period have the same probability for breech and cephalic presentation at delivery. [findzebra.com]

  • Hypothermia

    Induced mild hypothermia in children after brain injury. Rev Neurosci 2009;20:261-6. [ PUBMED ] 16. Newfield P, Feld LH, Hamid RK. Induced mild hypothermia in children after brain injury. In: Newfield P, Cottrell JE, editors. [ijaweb.org]

    Ultrasound of the head : preferred imaging in neonates as it is free of complications such as radiation exposure and hypothermia during exposure. Identifies dilated ventricles and fused sutures easily. [lecturio.com]

  • Rigor

    By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]

  • Ectopia Lentis

    Lentis Craniosynostosis with Fibular Aplasia Craniosynostosis with Ocular Abnormalities and Hallucal Defects Craniosynostosis, Adelaide Type Craniosynostosis, Anal Anomalies, and Porokeratosis Craniosynostosis, Calcification of Basal Ganglia, and Facial [rgd.mcw.edu]

    Although the association of retinal detachment with ectopia lentis is well known, this is the first report to our knowledge of a craniosynostosis, specifically oxycephaly, being associated with ectopia lentis and retinal detachment. Paper-7344773. [ihop-net.org]

    lentis Tall stature Abnormal form of the vertebral bodies Retrognathia Hypertension Wormian bones Bruising susceptibility Delayed eruption of teeth Abnormality of the elbow Arnold-Chiari type I malformation Tics Macular degeneration Atrial septal defect [mendelian.co]

  • Dolichocephaly

    1538Disease definitionCraniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly [malacards.org]

    […] syndrome Disease definition Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly [orpha.net]

    Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing [rarediseases.info.nih.gov]

  • Hypertelorism

    […] definitionCraniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism [malacards.org]

    […] definition Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism [orpha.net]

  • Frontal Bossing

    Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing [rarediseases.info.nih.gov]

    bossing, midface hypoplasia, and micrognathia). [mendelian.co]

  • Bulbous Nose

    nose Blue sclerae Autosomal recessive inheritance Scoliosis Micrognathia Joint laxity Gastroesophageal reflux Agenesis of corpus callosum Microcephaly Cutis laxa Redundant skin Edema Malar flattening Recurrent fractures Long philtrum Overfolded helix [mendelian.co]

    Clinical examination revealed frontal bossing, low-set floppy ears, coarse facial features with long arched eyebrows, broad and bulbous nose, full lower lip, and mild micrognathia. [ojrd.biomedcentral.com]

  • Neuralgia

    […] type 2 Generalized pustular psoriasis Genetic hyperparathyroidism Genetic neuromuscular disease Genetic peripheral neuropathy Genetic syndromic Pierre Robin syndrome Giant axonal neuropathy Glaucoma - sleep apnea Gliadin/Gluten ataxia Glossopharyngeal neuralgia [sanfordresearch.org]

[…] cadence with progressively shortening stride length, a hallmark of the gait impairment of Parkinson disease ) Frontal release signs (in late stages): Appearance of sucking and grasping reflexes Testing No specific blood tests are recommended in the workup [emedicine.medscape.com]

treatment articles: Treatments for Hydrocephalus Causes See also causal information: Causes of Dandy-Walker malformation Causes of Hydrocephalus Genetics See also genetics of related diseases: Genetics of Dandy-Walker malformation Genetics of Hydrocephalus [familydiagnosis.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Treatment - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus * Neurology (Brain/CNS Specialists): o Neurology (Brain/CNS Specialists) o Pediatric Neurology (Child Brain Specialist) o Pediatric Neurosurgery (Child Neurosurgeon [checkorphan.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus Not supplied. [checkorphan.org]

MRI Provides excellent delineation of the CSF and soft tissue brain components of the encephalocele. 53 Treatment: In cases involving hydrocephalus, shunting CSF from the brain may be necessary. 54 Prognosis: The prognosis of fetuses with an encephalocele [slideplayer.com]

Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus. [ncbi.nlm.nih.gov]

The prognosis of these patients depends mainly upon decompression of the cyst by cystectomy or cystoperitoneal shunt at an early stage. Shabnam Bhandari Grover, Ashutosh Pathak, N.C. Saxena Department of Radiology, [indianpediatrics.net]

(Outcomes/Resolutions) The prognosis for a child with Congenital Hydrocephalus is based on a combination of many factors. [dovemed.com]

The herniated portion of the brain is nonfunctioning. 49 Etiology: Results from a congenital defect or a trauma opening in the skull. 50 Epidemiology : Newborns are mostly affected. [slideplayer.com]

METHODS: An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. [ncbi.nlm.nih.gov]

[…] ventricle (dilated fourth ventricle) hydrocephalus bulging occiput cranial nerve palsies nystagmus truncal ataxia Radiology elevated imprint of the transverse sinuses thinning and bulging of posterior fossa bones posterior fossa cyst at the fourth ventricle Etiology [humpath.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology of hydrocephalus could not be ascertained in one child. [bioline.org.br]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

The herniated portion of the brain is nonfunctioning. 49 Etiology: Results from a congenital defect or a trauma opening in the skull. 50 Epidemiology : Newborns are mostly affected. [slideplayer.com]

Definitions and Epidemiology Head size is an easily measured clinical finding that can be followed over time. The head circumference is measured around the forehead and the occipital protuberance. [neurology.mhmedical.com]

Epidemiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations The dandy walker variant is seen in 1 in 30000 people with a sporadic distribution. [lecturio.com]

Epidemiology, diagnosis, treatment, and prevention of cerebrospinal fluid shunt infections. Neurosurg Clin N Am 2001; 12 (4) 703-708, viii 9 Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. [thieme-connect.com]

Pathophysiology Characteristics of Dandy-Walker syndrome include: Enlarged fourth ventricle: Cystic fourth ventricular dilation is present. [ispn.guide]

Table of Contents Definition of Craniosynostosis, DWv, and Arnold-Chiari Malformations Epidemiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations Etiology of Craniosynostosis, DWv, and Arnold-Chiari Malformations Pathophysiology of Craniosynostosis [lecturio.com]

PATHOPHYSIOLOGY: CSF production and absorption are in dynamic equilibrium, with average production equaling average absorption under normal physiologic conditions. [thamburaj.com]

Anaesthesia for children undergoing neurosurgery requires knowledge on cerebral pathophysiology and the interaction of anaesthetic agents on brain. [ijaweb.org]

Loss of genetic material in this region of chromosome 7p has been implicated in the pathophysiology of craniosynostosis and cephalopolysyndactyly syndromes. Paper-8648967. [ihop-net.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Prevention - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus Not supplied. [checkorphan.org]

Therefore, ventilation should be controlled as early as possible and mild hyperventilation be instituted to prevent rise in ICP. [ijaweb.org]

Early detection and treatment is vital to prevent adverse effects of this abnormality The prognosis is dependent on a variety of factors; however, one of the key factor that determines the outcome is the cause of Congenital Hydrocephalus Who gets Congenital [dovemed.com]

This early fusion prevents the skull from growing normally and affects the shape of the head and face. [findzebra.com]