Smith-Lemli-Opitz syndrome
نویسندگان
چکیده
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 staining techniques: confirmation of suspected 12pl2.3 intraband by deletion dosage effect of LDHB. Am J Med Genet 1981;9:95-103. 4 Tenconi R, Baccichetti C. Anglani F, Pellegrino PA, Kaplan JC, Junien C. Partial deletion of the short arm of chromosome 12(pl 1 ;pl3): report of a case. Ann Genet (Paris) 1975;18:95-8.
منابع مشابه
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a ...
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Vol. 8, Issue 3, July-September 2014 Saudi Journal of Anesthesia 7. Choi PT, Nowaczyk MJ. Anesthetic considerations in SmithLemli-Opitz syndrome. Can J Anaesth 2000;47:556-61. 8. Opitz JM. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr 1999;11:353-62. 9. Lin AE, Ardinger HH, Ardinger RH Jr, Cunniff C, Kelley RI. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med...
متن کاملThe Association of Common Atrium with Smith-lemli-opitz Syndrome in an Infant
Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect ...
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...
متن کاملSmith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?
Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal adrenal function. We speculate on the existence of a primary defect in the fetal adrenals.
متن کاملMaternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
BACKGROUND Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is caused by mutations in the Delta7 sterol-reductase gene (DHCR7; EC 1.3.1.21), which impair endogenous ch...
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