Salam.. tengah- tengah duk tengok gambar2 lama sambil melayan perasaan, tetiba terjumpa gambar yang diambil lebih kurang setahun yang lepas masa buat community services. Tak tahulah penting ke tak Marfan syndrome ni. Tapi dia boleh sebabkan banyak complication especially dekat hearts (Mitral valve prolapse occurs in at least 60% of people with Marfan syndrome and results from elongation of the mitral leaflets).
(Note at her long and narrow face, Tall, slender arms and fingers)
Ok! Nak tahu ape tu Marfan’s syndrome???
Benda ni ialah satu condition yang disebabkan oleh genetic mutation dan member kesan pada connective tissue dekat badan. Pada asalnya, benda ni disangka hanya disebabkan oleh hereditary condition je tapi kajian menunjukkan ia juga boleh disebabkan oleh spontaneous genetic mutation. Chromosome yang terlibat ialah chromosome 15. Kesannya, berlaku over production fibrillin protein.
Marfan syndrome affects the tissues that support the skeletal system, skin, eyes, lungs, nervous system and cardiovascular system. The skin is prone to stretch marks. Lung problems include altered lung elasticity, spontaneous lung collapse (pneumothorax) and sleep-disordered breathing (sleep apnea).
- Tall, slender, somewhat loose-jointed build; arms, legs, fingers and toes may be disproportionately long compared with the trunk.
- Flat arches, inward pronation or both.
- Abnormal spine curvature: scoliosis, double S shape to spine when viewed from the side, thoracic lordosis.
- Sternum may protrude (pectus carinatum) or indent (pectus excavatum).
- Roof of the mouth high and narrowly arched; teeth crowded; lower jaw recedes and may accentuate overbite.
- Face is long and narrow.
- Lens of the eye is off-center (ectopia lentis).
Nak tahu lebih detail, bukalah page ni
http://www.americanheart.org/presenter.jhtml?identifier=4672
http://emedicine.medscape.com/article/946315-overview
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