Hypertelorism-hypospadias Syndrome (Opitz Syndrome)
نویسندگان
چکیده
منابع مشابه
Smith-Lemli-Opitz syndrome
Mayeda K, Weiss L, Lindahl R, Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Ain J Humn Genet 1974:26:59-64. 2 Kivlin JD, Fineman RM, Williams MS. Phenotype variation in the del(12p) syndrome. Am J Med Genet 1985;22:769-79. 3 Magenis E, Brown M G. Chamberlin J. et al. Resolution of breakpoints in a complex rearrangement by use of multiple stai...
متن کامل[Smith Lemli-Opitz syndrome].
BACKGROUND Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis...
متن کاملThe Smith-Lemli-Opitz syndrome.
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in ver...
متن کاملThe telecanthus-hypospadias syndrome.
The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous publications. We have also had the opportunity to evaluate personally 12 families with a total of 18 affected males. The most frequent...
متن کاملSuspected Smith-Lemli-Opitz-Syndrome: A Very Rare Syndrome
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism for cholesterol synthesis. The enzyme defect involved in the syndrome is mutation of 7-Dehydrocholesterol reductase (DHCR7) which leads to increase in plasma concentration of 7and 8-dehydrocholesterol (DHC) levels. The affected patients have different presentation and usually involve all systems of the body. We report a newborn ...
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ژورنال
عنوان ژورنال: Acta Biológica Paranaense
سال: 1984
ISSN: 2236-1472,0301-2123
DOI: 10.5380/abpr.v13i0.870