Presentation
At present, the genetic basis determining the different phenotypes observed in our twins is unknown. [ncbi.nlm.nih.gov]
Clinical description Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal. [orpha.net]
Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]
Entire Body System
-
Pathologist
general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child. [books.google.es]
Musculoskeletal
-
Musculoskeletal Pain
Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions. [books.google.com]
Neurologic
-
Thalamic Pain
Get a broader perspective on your field from new chapters on Labral Tears of the Shoulder and Hip, Pubalgia, Chondral Injuries, Central Post-Stroke Pain (Thalamic Pain Syndrome), Chemotherapy-induced Peripheral Neuropathy, Radiation Fibrosis Syndrome, [books.google.com]
Treatment
Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions. [books.google.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]
Treatment and prognosis Prognosis is poor and death often occurs in utero however live births are possible 1,2. neural tube defects anencephaly Promoted articles (advertising) [radiopaedia.org]
Prognosis
Remarkably intracardiac defects do not seem to affect prognosis much. [alliedacademies.org]
Treatment and prognosis Prognosis is poor and death often occurs in utero however live births are possible 1,2. neural tube defects anencephaly Promoted articles (advertising) [radiopaedia.org]
(Outcomes/Resolutions) The prognosis of Craniorachischisis is extremely poor, since the condition almost always results in fatalities. [dovemed.com]
The prognosis of Cantrell pentalogy is related to the severity of defects identified. [ijcasereportsandimages.com]
Etiology
We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. Further investigations are therefore necessary. [ncbi.nlm.nih.gov]
Etiology As with other neural tube defects, craniorachischisis is thought to be of multifactorial origin. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring. [orpha.net]
Etiology, pathogenesis and prevention of neural tube defects. Congenit. Anom. 2006, 46, 55–67. 11. Tania M, Jean-Paul Borg. Neural Tube Defects: From a Proteomic Standpoint. Metabolites 2015, 5,164-183. 12. Copp, A.J.; Greene, N.D. [jmscr.igmpublication.org]
Epidemiology
Summary Epidemiology The prevalence is not known. Clinical description Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal. [orpha.net]
Epidemiology and control of neural tube defects. 1st ed. Oxford, England: Oxford University Press; 1992. pp. 521–603. [ Google Scholar ] 4. Medical Research Council Vitamin Study Research Group. [ncbi.nlm.nih.gov]
Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC: Human Neural Tube Defects: Developmental biology, epidemiology and genetics. Neurotoxicology& Teratology, 2005; 27(3): 515–524. 15. [jmscr.igmpublication.org]
Prevention
Preventing neural tube defects Research date: 1 June 2018 - 30 September 2020 Grant amount: 189,516.00 Neural tube defects (NTDs) are severe developmental abnormalities that affect a baby’s brain, spine, or spinal column. [action.org.uk]
Parental counseling and folic acid supplement, started before conception and continued through out the pregnancy are the recommended preventive measures. [ncbi.nlm.nih.gov]
However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development Anencephaly (Medical Encyclopedia) [ Read More ] [icdlist.com]