a2zmedicalnote

Introduction Autosomal Dominant condition  Ras-MAPK pathway Defect  Due to mutation in       PTPN11 protein-tyrosine phosphatase,non-receptor-type 11) gene on chromosome 12.       10–15% are caused by SOS1 (son of seven-less homologue 1 (Drosophila), on      chromosome and RAF1 NS is often associated with advanced paternal age  Karyotype is usually normal. Male: Female - 4:1 Phenotypically looks like Turner So if male and looks like Turner think of Noonan.  Clinical Features  Cardiovascular     Pulmonary valve stenosis (Most common)     Hypertrophic cardiomyopathy      Branch pulmonary artery stenosis     Septal defects  Musculoskeletal      Webbed or short neck      Pectus excavatum or carinatum      Wide-spaced nipples      Wide carrying angle (cubitus valgus)      Short stature...

What is situs solitus? In situs solitus the viscera are in their normal positions (stomach and spleen on the left, liver on the right), the 3-lobed right lung is on the right, and the 2-lobed left lung on the left;the right atrium is on the right, and the left atrium is on the left.  What is situs inversus? The mirror image of situs solitus, in which there is a reversal of placement of the abdominal and thoracic structures resulting in a left-sided liver, right-sided stomach, left-sided IVC, right atria on the left side, and the left atria on the right side.  With this arrangement, concordance among organs, vessels, and cardiac components is generally conserved. What is heterotaxy? Heterotaxy, derived from Greek (hetero, meaning "different," and taxy, meaning "arrangement"), is also referred to as visceral heterotaxy or heterotaxy syndrome. It is defined as an abnormal arrangement of the internal thoracic-abdominal organs across the left-right axis of the body.  Wha...