Presentation
However, one may speculate based on the clinical presentation of the case reported above that the anesthetic considerations would be mostly focused on the airway management since severe retrognathia was present. [accessanesthesiology.mhmedical.com]
In this case, no family history of malformations was present. A chromosome aberration cannot be ruled out. Prevention - Kasznica Carlson Coppedge syndrome Cannot be prevented. [checkorphan.org]
The documents contained in this web site are presented for information purposes only. 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]
Entire Body System
- Fatigue
Syndrome Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB chromosome 8q21.11 deletion syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome Chromosome Xq28 Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue [rgd.mcw.edu]
Cardiovascular
- Heart Disease
Considerations for patients with congenital heart disease include cardiovascular anatomy and function, current medications, endocarditis prophylaxis, and prevention of air embolus. [accessanesthesiology.mhmedical.com]
Disease, Single Umbilical Artery re- ported by Kasznica et al. [19911. [fdocuments.net]
[…] limb deficiency hypospadias Lower mesodermal defects Lowry syndrome Lowry Wood syndrome Lowry Yong syndrome Lubani Al Saleh Teebi syndrome Lubinsky syndrome Lucky Gelehrter syndrome Lumbar malsegmentation short stature Lundberg syndrome Lung agenesis heart [en.wikipedia.org]
- Heart Murmur
In the case of a surviving person, a ventricular septal defect (VSD) often causes a heart mumur that can be heard using a stethoscope. If a heart murmur is present, other tests such as ECGs, X-rays and cardiac catheterization may be performed. [checkorphan.org]
Psychiatrical
- Suggestibility
Diagnosis - Kasznica Carlson Coppedge syndrome Spina bifida can be diagnosed using a Maternal serum alpha-fetoprotein (MSAFP) test; abnormally high levels of AFP in the mother's blood suggest that the baby has a neural tube defect. [checkorphan.org]
Cephalin Lipidosis cerebellar ataxia, mental retardation and dysequlibrium syndrome + Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar Vermis Aplasia with Associated Features suggesting [rgd.mcw.edu]
Neurologic
- Agitation
Retardation, and Deafness PSAT deficiency Pseudo-TORCH Syndrome + Pseudo-Zellweger Syndrome Pseudoaminopterin Syndrome pseudobulbar palsy + Pseudotrisomy 13 Syndrome Pseudouridinuria and Mental Defect psoriatic arthritis PSPH deficiency Psychomotor Agitation [rgd.mcw.edu]
Treatment
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
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 - Kasznica Carlson Coppedge syndrome Resources - Kasznica Carlson Coppedge syndrome https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517769 [checkorphan.org]
Prevention
Prevention - Kasznica Carlson Coppedge syndrome Cannot be prevented. [checkorphan.org]
Patients with uncorrected myelomeningocele must be handled carefully to prevent damage to or rupture of the sac. Latex precautions or allergy are a concern in these patients. [accessanesthesiology.mhmedical.com]
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]