Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism
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 کامل[Smith-Lemli-Opitz syndrome (case report)].
To date, 11 cases with the Smith-Lemli-Opitz syndrome of failure to thrive and mental retardation, plus anomalies of the face, hands, feet, and genitalia have been reported (Smith, Lemli, and Opitz, 1964; Gibson, 1965; Blair and Martin, 1966; Dallaire and Fraser, 1966; Pinsky and DiGeorge, 1965). The purpose of this paper is to describe one more case which, in addition, presented evidence of an...
متن کاملSmith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancre...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2010
ISSN: 1552-4868,1552-4876
DOI: 10.1002/ajmg.c.30241