Opitz Syndrome
Mostrando 1-12 de 27 artigos, teses e dissertações.
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1. Tooth abnormalities, soft tissue changes and craniofacial morphology in patients with velocardiofacial syndrome and G/BBB syndrome / Disgenesias dentárias, alterações de tecido mole e morfologia craniofacial em pacientes com síndrome velocardiofacial e síndrome G/BBB
This study investigated the prevalence of tooth abnormalities, soft tissue changes and cephalometric analysis in patients with velocardiofacial syndrome and G/BBB syndrome. The presence of tooth abnormalities was evaluated in patients older than six years; cephalometric analysis was conducted on lateral cephalograms obtained before any orthodontic interventi
Publicado em: 2007
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2. Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients. Scalco et al. Genetics and Molecular Biology (this issue)
Genetics and Molecular Biology. Publicado em: 2006
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3. Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group
Genetics and Molecular Biology. Publicado em: 2006
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4. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-10
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5. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. R
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6. Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.
We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality,
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7. Smith-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.
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8. An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.
Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an addit
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9. De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertaintie
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10. Congenital anal anomalies in two families with the Opitz G syndrome.
Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genet
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11. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged inclu
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12. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome
BioMed Central.