Gorlin Chaudhry Moss syndrome
Overview
Gorlin-Chaudhry-Moss Syndrome: A very rare inherited condition involving various physical and mental abnormalities.
Symptoms
The list of signs and symptoms mentioned in various sources for Gorlin-Chaudhry-Moss Syndrome includes the 19 symptoms listed below: * Craniofacial dysostosis * Dental anomalies * Small eyes * Inability to open eyes fully * Inability to close eyes fully * Oblique space between eyelids * Horizontal nystagmus * Limited upper gaze * Astigmatism * Farsightedness * Corneal scars * Patency of ductus arteriosus * Growth of excess hair occurs on most of body * Underdeveloped labia majora * Premature closure of skull bones * Missing teeth * Mild growth retardation * Short fingers * Short toes
Causes
Normally, the ductus closes within days to weeks after birth. Failure to close is most prevalent in premature neonates, probably as a result of abnormalities in oxygenation or the relaxant action of prostaglandin E, which prevents ductal spasm and contracture necessary for closure. PDA commonly accompanies rubella syndrome and may be associated with other congenital defects, such as coarctation of the aorta, ventricular septal defect, and pulmonary and aortic stenoses. In PDA, relative resistances in pulmonary and systemic vasculature and the size of the ductus determine the amount of left-to-right shunting. The left atrium and left ventricle must accommodate the increased pulmonary venous return, in turn increasing filling pressure and workload on the left side of the heart and possibly causing heart failure. In the final stages of untreated PDA, the left-to-right shunt leads to chronic pulmonary artery hypertension that becomes fixed and unreactive. This causes the shunt to reverse; unoxygenated blood thus enters systemic circulation, causing cyanosis. PDA is found in 1 of every 2,500 to 5,000 infants and is the most common congenital heart defect found in adults. It affects twice as many females than males.
Treatment
Asymptomatic infants with PDA require no immediate treatment. Those with heart failure require fluid restriction, diuretics, and cardiac glycosides to minimize or control symptoms. If these measures can’t control heart failure, surgery is necessary to ligate the ductus. If symptoms are mild, surgical correction is usually delayed until the infant is between ages 6 months to 3 years, unless problems develop. Before surgery, children with PDA require antibiotics to protect against infective endocarditis. Other forms of therapy include cardiac catheterization to deposit a plug or coil in the ductus to stop shunting or administration of indomethacin I.V. (a prostaglandin inhibitor that’s an alternative to surgery in premature neonates) to induce ductus spasm and closure.