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1.
Am J Med Genet A ; 155A(8): 2015-7, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21739579

ABSTRACT

Marshall-Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall-Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities. © 2011 Wiley-Liss, Inc.


Subject(s)
Bone Diseases, Developmental/complications , Craniofacial Abnormalities/complications , Hyperpigmentation/complications , Septo-Optic Dysplasia/complications , Abdomen/pathology , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Back/pathology , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/pathology , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/pathology , Developmental Disabilities/diagnosis , Extremities/pathology , Female , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/pathology , Infant , Septo-Optic Dysplasia/diagnosis , Septo-Optic Dysplasia/pathology , Skin/pathology , Thorax/pathology
2.
Rev Med Chil ; 138(6): 767-72, 2010 Jun.
Article in Spanish | MEDLINE | ID: mdl-20919489

ABSTRACT

Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7%. There is a genetic predisposition to develop hypertension, whose magnitude is approximately 30 to 50%. At present, some factors are known to increase the risk for cardiovascular disease, but widely accepted biomarkers for screening are missing. The first studies that looked for candidate genes have focused on the renin-angiotensin--aldosterone, aducina, adrenoreceptors beta, G protein subunits, G protein signaling regulators, kinases associated with G proteins and Rho kinases. Studies of DNA sequencing search for polymorphisms and variants through single nucleotide polymorphisms, have been used to seek partnerships with complex or multifactorial diseases, like HTA. Examples of these are: components of collagen proteins, genes related to cell myocardial proteins belonging to cytochrome P450 and growth factors, among others. It is still unlikely to count in a near future with a universal marker. Most probably, a series of markers that confer susceptibility to a specific individual will have to be used in prevention programs or personalized therapy.


Subject(s)
Hypertension/genetics , Renin-Angiotensin System/genetics , Genetic Markers , Humans
3.
Community Genet ; 7(2-3): 121-5, 2004.
Article in English | MEDLINE | ID: mdl-15539827

ABSTRACT

Demographic changes in Chile have positioned congenital malformations as a major cause of infant morbidity and mortality. At the same time, medical genetics has become increasingly important in relation to the diagnosis and management of individuals with birth defects and hereditary conditions as well as in the study of pathological pregnancies and reproductive problems. In addition, recent advances in genomic research are expanding the relevance of medical genetics to medicine as a whole. This article reviews the clinical genetic resources currently available in Chile; the teaching of genetics in undergraduate, graduate, and continued medical education; some relevant interventions that have taken place in our country, e.g. the expansion of the newborn screening program and the initiation of a folic acid fortification program, and recent efforts to enhance population access to clinical genetics services.


Subject(s)
Genetic Services/organization & administration , Chile , Congenital Abnormalities/prevention & control , Cytogenetic Analysis , Delivery of Health Care/organization & administration , Delivery of Health Care/standards , Genetic Diseases, Inborn/prevention & control , Genetic Services/standards , Genetic Testing , Health Occupations/education , Humans
4.
Am J Med Genet A ; 121A(1): 41-6, 2003 Aug 15.
Article in English | MEDLINE | ID: mdl-12900900

ABSTRACT

We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.


Subject(s)
Abnormalities, Multiple/genetics , Mutation, Missense/genetics , Receptor Protein-Tyrosine Kinases/genetics , Receptors, Fibroblast Growth Factor/genetics , Brazil , Chile , Craniosynostoses/complications , Craniosynostoses/genetics , DNA Primers , Fatal Outcome , Humans , Phenotype , Receptor, Fibroblast Growth Factor, Type 2 , Sequence Analysis, DNA , Syndrome
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