• 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)
  • 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)
  • 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)
  • common
  • Language impairments are more common in Noonan syndrome than in the general population. (thinkgenetic.com)
  • Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. (bireme.br)
  • clinical
  • acute coronary syndrome a classification encompassing clinical presentations ranging from unstable angina through non , sometimes also including Q wave infarction . (thefreedictionary.com)
  • 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)
  • relatively
  • Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. (wikipedia.org)
  • early
  • Therefore, the syndrome is not always identified at an early age. (wikipedia.org)
  • Early infancy: An infant that is less than one month old may have slanting wide-set eyes, an upper lip with wide peaks and a deep groove, a short neck, low-set ears, and a low backside hairline. (insidetheclinic.com)
  • condition
  • It was Dr John Opetz, a former student of Dr Noonan, who first began to call the condition 'Noonan Syndrome' when he saw children who looked like those whom Dr Noonan had described. (netmegs.com)
  • Nystagmus is a condition of involuntary (or voluntary, in rare cases) eye movement, acquired in infancy or later in life, that may result in reduced or limited vision. (wikipedia.org)
  • known
  • Cryptorchidism, hypospadias, testicular cancer and poor semen quality make up the syndrome known as testicular dysgenesis syndrome. (wikipedia.org)
  • Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. (wikipedia.org)
  • Paraphilic infantilism, also known as autonepiophilia, psychosexual infantilism, and adult baby syndrome is a sexual fetish that involves role-playing a regression to an infant-like state. (wikipedia.org)
  • pulmonary
  • There must be something about the pulmonary valve that could give us a clue as to the cause of Noonan Syndrome. (netmegs.com)
  • acute respiratory distress syndrome (ARDS) fulminant pulmonary interstitial and alveolar edema, which usually develops within a few days after the initiating trauma, thought to result from alveolar injury that has led to increased capillary permeability. (thefreedictionary.com)
  • nose
  • Infancy: The affected infant may have a nose with a pressed top, a wider base and a rounded tip, as well as noticeable eyes with thick eyelids and a descending slant. (insidetheclinic.com)