[vc_row row_type=”row” use_row_as_full_screen_section=”no” type=”full_width” oblique_section=”no” text_align=”left”][vc_column][vc_accordion style=”accordion”][vc_accordion_tab title=”Common examiner questions”][vc_column_text]Common examiner questions include the following:

  1. What do you think this patient has?
  2. How would you like to investigate this patient next?
  3. What do you think the underlying cause of this patient’s signs is?

[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Diagnosis and clinical signs”][vc_column_text]This patient has wide spaced eyes, a webbed neck, wide carrying angle in the arms and short stature.[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Discussion”][vc_column_text]Noonan syndrome is one of the most common genetic diseases, second only to Down syndrome of congenital conditions associated with a congenital heart defect.

The most common heart defect associated with the condition is pulmonary stenosis with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy.

Other defects that have been reported include:

  • atrial septal defect
  • atrioventricular septal defect
  • left-sided obstructive lesions
  • tetralogy of Fallot
  • patent ductus arteriosus

Other features include the following:

  • Short stature (50-70%)
    • differential diagnosis includes familial and Turner syndrome
  • Macrocephaly (enlarged head)
  • Ptosis
  • Webbed neck
  • Wide set nipples
  • Elbow anomalies
  • Undescended testes
  • Coagulation abnormalities leading to easy bruising
  • Cardiac defects (50-80%)
  • Thoracic deformities;
    • kyphosis
    • scoliosis
  • Developmental delay (65-85%)

[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Specimen case presentation”][vc_column_text]”This patient has a webbed neck, short stature and a scoliosis.  I suspect that he has Noonan syndrome.  I would like to auscultate his chest to determine whether or not he has pulmonary stenosis.”[/vc_column_text][/vc_accordion_tab][/vc_accordion][/vc_column][/vc_row]