asmi
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What is it ?
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| kiranmayi
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Smith-Lemli-Opitz syndrome (SLOS) is a well-known malformation syndrome with principal characteristics of psychomotor and growth retardation, cleft palate, hypospadias, postaxial polydactyly, and a distinctive craniofacial appearance consisting of microcephaly, ptosis, inner epicanthal folds, anteverted nares, and micrognathia.
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| asmi
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Smith-Lemli-Opitz syndrome (SLOS) is
*single gene defect.
*a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe mental retardation, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, post-axial polydactyly, and 2-3 syndactyly of the toes.
*Diagnosis : The diagnosis of SLOS relies upon clinical suspicion and detection of elevated serum concentration of 7-dehydrocholesterol (7-DHC) or an elevated 7-dehydrocholesterol:cholesterol ratio.
*Treatement: give vegtable oil with added high cholesterol in early weeks of life.
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