Presentation
In the present study, the authors present a series of four such cases. Copyright © 2012 S. Karger AG, Basel. [ncbi.nlm.nih.gov]
Severe intellectual disability is present in 10–15% of these patients. [emedicine.com]
Entire Body System
Respiratoric
- Respiratory Insufficiency
Neural tube defects appear to be common findings in patients with JLS, and chest hypoplasia frequently leads to respiratory insufficiency and death in early childhood. [ncbi.nlm.nih.gov]
Musculoskeletal
- Short Trunk
Abstract Jarcho-Levin syndrome (JLS) is a rare axial skeletal growth disorder characterized by the presence of multi-level costovertebral malformations, a short neck, a short trunk, and kyphoscoliosis at birth. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Short Neck
Abstract Jarcho-Levin syndrome (JLS) is a rare axial skeletal growth disorder characterized by the presence of multi-level costovertebral malformations, a short neck, a short trunk, and kyphoscoliosis at birth. [ncbi.nlm.nih.gov]
Workup
Neural Tube Defects in the Neonatal Period Workup. Available online at http://emedicine.medscape.com/article/1825866-workup. Accessed July 30, 2014. Facts about anecephaly. Centers for Disease Control and Prevention. [labtestsonline.it]
Treatment
Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive. [ninds.nih.gov]
We describe here the occurrence and treatment results of PNET-SC in a boy who exhibited several neuroskeletal malformations suggestive of an underlying NTD. [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 [nlm.nih.gov]
Prognosis
The experience of our centre would be beneficial as a tool for nondirective counselling of these patients when considering the antenatal/postnatal care options and postnatal prognosis. [ncbi.nlm.nih.gov]
Prognosis The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations. x Prognosis The prognosis for individuals with encephaloceles varies [ninds.nih.gov]
These lesions do not have associated hydrocephalus but have a more guarded prognosis than simple meningoceles. [emedicine.com]
Etiology
CONCLUSIONS: ETV is a valid treatment for hydrocephalus of any etiology. There exists a small difference in success rates between infection, hemorrhage, and neural tube disorders, though not enough to discount ETV for these etiologies. [ncbi.nlm.nih.gov]
Epidemiology
AIM OF THE STUDY: We conducted an epidemiological study to determine the impact of some feto-maternal characteristics in the occurrence of NTD subtypes. [ncbi.nlm.nih.gov]
Epidemiology 13:625–630 PubMed CrossRef Google Scholar 34. [doi.org]
Brouwer *Division of Human Nutrition and Epidemiology, Wageningen Agricultural University, 6700 EV Wageningen Search for other works by this author on: Marijke van Dusseldorp *Division of Human Nutrition and Epidemiology, Wageningen Agricultural University [jn.nutrition.org]
[…] doi.org/10.1136/bmj.38336.664352.82 (Published 10 March 2005) Cite this as: BMJ 2005;330:571 Lorenzo D Botto ( icbd{at}icbd.org ), senior fellow 1 ⇑, Alessandra Lisi, epidemiologist 2, Elisabeth Robert-Gnansia, programme director 3, J David Erickson, epidemiology [bmj.com]
Pathophysiology
Abstract INTRODUCTION: Experimental animal models are essential for investigation of the pathoembryogenesis, pathophysiology, and management strategy of spinal open neural tube defect (ONTD) and its associated anomalies including Chiari type II malformation [ncbi.nlm.nih.gov]
Prevention
CONCLUSIONS: The South Carolina NTD recurrence-prevention program appears comparable in cost effectiveness to other preventive services. Other states might consider including NTD recurrence prevention in birth defect-prevention programs. [ncbi.nlm.nih.gov]
As figure 2 shows, affected pregnancies accumulate for each year that effective prevention is delayed. [bmj.com]