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  • congenital
  • Noonan syndrome is characterized by facial features, short stature, congenital heart defect, and developmental delay. (thinkgenetic.com)
  • Play media The diagnosis of pulmonary valve stenosis can be achieved via echocardiogram, as well as a variety of other means among them are: ultrasound, in which images of the heart chambers in utero where the tricuspid valve has thickening (or due to Fallot's tetralogy, Noonan's syndrome, and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur. (wikipedia.org)
  • adolescence
  • Age of onset is during infancy in 30-80% of cases, However, the age of onset is often different than the age at which it becomes a concern, e.g., adolescence, when the pectus deformity can progress to become deeper and more apparent. (clinicaladvisor.com)
  • Chronic
  • The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome. (wikipedia.org)
  • Karyotype
  • A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism. (medscape.com)
  • Despite the excellent postnatal prognosis, 99% of Turner-syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,X karyotype. (wikipedia.org)
  • surgical
  • Without intervention, an undescended testicle will usually descend during the first year of life, but to reduce these risks, undescended testes can be brought into the scrotum in infancy by a surgical procedure called an orchiopexy. (wikipedia.org)
  • developmental
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • early
  • Therefore, the syndrome is not always identified at an early age. (wikipedia.org)
  • Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. (wikipedia.org)
  • patients
  • There have been few reports of patients with Noonan syndrome who have subsequently suffered from Malignant Hyperthermia (MH). (wikipedia.org)
  • Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. (medscape.com)
  • webbed neck
  • Noonan syndrome is also associated with a webbed neck, which means that people affected by this condition may have a thicker than usual neck with skin creases that appear to form a "web" between the upper chest and jaw. (verywellhealth.com)
  • Turner Syndrome
  • Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. (medscape.com)
  • Noninvasive prenatal testing of maternal blood can be used to screen for Turner syndrome with great sensitivity and specificity. (medscape.com)
  • Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome. (wikipedia.org)
  • Turner syndrome is not usually inherited from a person's parents. (wikipedia.org)
  • Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. (wikipedia.org)
  • No cure for Turner syndrome is known. (wikipedia.org)
  • Among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population. (wikipedia.org)
  • treatment
  • These associated health problems are anticipated in association with Noonan syndrome Your outcome will be much better if you schedule medical visits to monitor your health and obtain timely treatment for any medical issues that arise before they advance to cause serious consequences. (verywellhealth.com)