Another possible finding is a widened pulse pressure. Mitral stenosis presents as a diastolic low-pitched decrescendo murmur. It is best heard at the cardiac apex in the left lateral decubitus position. Mitral stenosis may have an opening snap. Increasing severity will shorten the time between S2 (A2) and the opening snap. For example, in severe MS the opening snap will occur earlier after A2. Tricuspid valve stenosis presents as a diastolic decrescendo murmur. One can hear it at the left lower sternal border. One may see signs of right heart failure on exam. Pulmonary valve regurgitation presents as a diastolic decrescendo murmur. One may hear it at the left lower sternal border. A palpable S2 in the second left intercostal space correlates with pulmonary hypertension due to mitral stenosis. The cooing dove murmur is a cardiac murmur with a musical quality (high pitched). Associated with aortic valve regurgitation (or mitral regurgitation before rupture of chordae). It is a diastolic murmur heard over the mid-precordium.Continuous and Combined Systolic/Diastolic
Patent ductus arteriosus may present as a continuous murmur radiating to the back. Severe coarctation of the aorta can present with a continuous murmur. One may hear the systolic component at the left infraclavicular region and the back. This is due to the stenosis. One may hear the diastolic component over the chest wall. This is due to blood flow through collateral vessels. Acute severe aortic regurgitation may present with a three phase murmur. First, a midsystolic murmur followed by S2.
The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia (also known as Kartagener Syndrome), Bardet–Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent. References
External links

NINDS Joubert Syndrome Information Page
Researchers Identify Joubert Syndrome Genes
GeneReviews: Joubert syndrome
NCBI Joubert Syndrome